Fetal Diseases Category (5350 diseases)

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

#	Family	MCID	Name	MIFTS
1		FTL028	Fetal Retinoid Syndrome	14
2	P	PRG092	Pregnancy Loss, Recurrent 1	41
3	P	PRM252	Preimplantation Embryonic Lethality 1	25
4		TWN001	Twin-to-Twin Transfusion Syndrome	46
5		NCH001	Nuchal Bleb, Familial	24
6	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	45
7		EMB006	Embryonal Testis Carcinoma	31
8		CHL043	Childhood Embryonal Testis Carcinoma	8
9		PDT006	Pediatric Cns Embryonal Cell Carcinoma	7
10	P	EMB005	Embryonal Rhabdomyosarcoma	53
11		FTL004	Fetal Erythroblastosis	32
12		OVR050	Ovarian Embryonal Carcinoma	31
13		CHL026	Childhood Ovarian Embryonal Carcinoma	8
14	c	ADL007	Adult Central Nervous System Embryonal Carcinoma	7
15		FTL066	Fetal Akinesia Syndrome, X-Linked	14
16		FTL011	Fetal Aminopterin Syndrome	11
17		ACT091	Acitretin Embryopathy	7
18		CHL153	Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified	4
19		INT309	Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin	24
20	P	PRS062	Persistent Hyperplastic Primary Vitreous	48
21		ORB002	Orbit Embryonal Rhabdomyosarcoma	29
22		INT041	Intratubular Embryonal Carcinoma	26
23		GRM001	Germ Cell and Embryonal Cancer	25
24	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	24
25	c	PRM251	Preimplantation Embryonic Lethality 2	16
26		PRS010	Prostate Embryonal Rhabdomyosarcoma	26
27		MTR016	Maternal Hyperphenylalaninemia	19
28	c	FTL035	Fetal Hemoglobin Quantitative Trait Locus 3	15
29		CRD031	Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification	8
30		EMB001	Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma	6
31		VLV013	Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma	5
32		NNC014	Non-Central Nervous System-Localized Embryonal Carcinoma	5
33		GCH018	Gaucher Disease, Perinatal Lethal	41
34		ALC001	Alcohol-Related Birth Defect	36
35		PRM208	Parameningeal Embryonal Rhabdomyosarcoma	28
36		PRT001	Partial Fetal Alcohol Syndrome	21
37		FTL021	Fetal Macrosomia	41
38		HRD180	Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome	26
39		FTL005	Fetal Adenoma	21
40		CCN012	Cocaine Antenatal Exposure	14
41		NNT022	Neonatal Ovarian Cyst	14
42		FTL048	Fetal Lung Interstitial Tumor	12
43	c	FTL034	Fetal Hemoglobin Quantitative Trait Locus 4	11
44		THY113	Thymic Aplasia with Fetal Death	8
45		MXD015	Mixed Type Rhabdomyosarcoma	5
46		SMT021	Somatomedin, Embryonic	4
47		FTL063	Fetal Nicotine Spectrum Disorder	3
48		FTL020	Fetal Left Ventricular Aneurysm	3
49		FTL025	Fetal Parainfluenza Virus Type 3 Syndrome	1
50		FTL027	Fetal Phenothiazine Syndrome	1
51	P	HRT032	Heart Disease	81
52	c	FNC027	Fanconi Anemia, Complementation Group a	81
53		PFF001	Pfeiffer Syndrome	77
54	P	JBR020	Joubert Syndrome 1	74
55	P	ALG028	Alagille Syndrome 1	73
56		SCH036	Scheie Syndrome	73
57	P	DMN001	Diamond-Blackfan Anemia	71
58		CNT097	Central Hypoventilation Syndrome, Congenital	70
59	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	70
60	P	CCK001	Cockayne Syndrome	68
61	P	OCL013	Oculodentodigital Dysplasia	67
62	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	65
63	P	HYP055	Hypoplastic Left Heart Syndrome	65
64		HTC003	Hutchinson-Gilford Progeria Syndrome	65
65	c	MCL013	Mucolipidosis Iv	65
66	P	PTT014	Pitt-Hopkins Syndrome	64
67		INC021	Incontinentia Pigmenti	63
68		RBR002	Roberts-Sc Phocomelia Syndrome	63
69	P	CRB048	Cerebral Cavernous Malformations	63
70	P	THN009	Thanatophoric Dysplasia, Type I	63
71		CSY001	C Syndrome	61
72		CRT002	Cartilage-Hair Hypoplasia	60
73	P	STC001	Stickler Syndrome	60
74	c	MCL046	Mucolipidosis Iii Alpha/beta	60
75	P	VND007	Van Der Woude Syndrome 1	60
76		CFF002	Coffin-Lowry Syndrome	60
77		SCR020	Sacral Defect with Anterior Meningocele	59
78	P	CMR001	Camurati-Engelmann Disease	59
79	P	PLY006	Polydactyly	59
80	P	VNT002	Ventricular Septal Defect	58
81	c	SPN309	Spinocerebellar Ataxia 6	58
82		PRL032	Perlman Syndrome	57
83		ANN002	Anencephaly	57
84		MLT134	Multiple Pterygium Syndrome, Lethal Type	56
85		MRS002	Marshall Syndrome	56
86		PRN038	Prune Belly Syndrome	56
87		MWT001	Mowat-Wilson Syndrome	55
88	P	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	55
89		KBG001	Kbg Syndrome	54
90	P	FML012	Familial Partial Lipodystrophy	54
91	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	54
92		DNR002	Duane-Radial Ray Syndrome	54
93	c	LTH007	Lethal Congenital Contracture Syndrome 1	53
94		KGM001	Kagami-Ogata Syndrome	53
95	P	DNR001	Duane Retraction Syndrome	53
96		MLL018	Miller-Dieker Lissencephaly Syndrome	52
97		OPT054	Opitz-Kaveggia Syndrome	52
98	P	ART018	Aortic Valve Insufficiency	52
99		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	52
100		FRY006	Fryns Microphthalmia Syndrome	52
101	P	NNT058	Neonatal Diabetes	52
102	P	KLN006	Koolen-De Vries Syndrome	51
103		MGL038	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	51
104		HYP088	Hyper-Igd Syndrome	51
105		OLG003	Oligohydramnios	51
106	P	RBN002	Robinow Syndrome	51
107		LBS001	Lubs X-Linked Mental Retardation Syndrome	50
108		CHR005	Chorioamnionitis	50
109		ABL002	Ablepharon-Macrostomia Syndrome	50
110	P	NNN037	Noonan Syndrome-Like Disorder with Loose Anagen Hair	50
111	c	BRC079	Brachydactyly, Type A2	50
112	c	BRC051	Brachydactyly, Type B1	50
113	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
114		YNS002	Yunis-Varon Syndrome	50
115		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	50
116		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	50
117		AGN003	Agenesis of the Corpus Callosum with Peripheral Neuropathy	50
118	c	VNM003	Van Maldergem Syndrome 1	50
119	c	MCK032	Meckel Syndrome, Type 3	49
120		VSD002	Vas Deferens, Congenital Bilateral Aplasia of	49
121	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	49
122	P	SMP003	Simpson-Golabi-Behmel Syndrome	49
123	P	OVR082	Overgrowth Syndrome	49
124		MLT145	Multiple Enchondromatosis, Maffucci Type	49
125		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	49
126	c	FNC048	Fanconi Anemia, Complementation Group O	49
127		PLC008	Placenta Disease	49
128	c	HLP024	Holoprosencephaly 2	49
129	c	BRD011	Bardet-Biedl Syndrome 10	49
130		CNT056	Cantu Syndrome	48
131		CHN065	Choanal Atresia, Posterior	48
132	c	SCK009	Seckel Syndrome 1	48
133		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	48
134		SHR098	Short-Rib Thoracic Dysplasia 12	48
135	c	HLP026	Holoprosencephaly 3	48
136	c	JBR012	Joubert Syndrome 5	47
137		PLC007	Placental Abruption	47
138		LBR025	Lobar Holoprosencephaly	47
139		CRR002	Currarino Syndrome	47
140	c	MCK012	Meckel Syndrome, Type 6	46
141	P	MGL030	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	46
142		PLY012	Polyhydramnios	46
143		PRL023	Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome	46
144	c	FNC047	Fanconi Anemia, Complementation Group Q	46
145		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	46
146	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	46
147	c	SPN312	Spinocerebellar Ataxia 14	46
148		ALB014	Alobar Holoprosencephaly	46
149	c	OPT051	Opitz Gbbb Syndrome, Type I	46
150		NNC002	Nance-Horan Syndrome	46
151	c	MCK031	Meckel Syndrome, Type 2	45
152		ACR012	Aicardi Syndrome	45
153	c	JBR014	Joubert Syndrome 9	45
154	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	45
155	c	MCK014	Meckel Syndrome, Type 5	45
156	P	PLY148	Polydactyly, Preaxial Ii	45
157	P	CMM008	Communicating Hydrocephalus	45
158		WHT019	White-Sutton Syndrome	44
159		MCR359	Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss	44
160		PLC001	Placenta Accreta	44
161	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	44
162		MCR173	Microform Holoprosencephaly	44
163	c	GLP003	Geleophysic Dysplasia 1	44
164	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	44
165	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	44
166	c	BRC109	Brachydactyly, Type E1	43
167	c	RNG023	Ring Chromosome 7	43
168		DXT002	Dextrocardia with Situs Inversus	43
169	P	CHN044	Chondrodysplasia Punctata Syndrome	43
170	c	PNT049	Pontocerebellar Hypoplasia, Type 2d	43
171		CYN002	Cyanosis, Transient Neonatal	43
172	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	43
173	P	SYN075	Syngnathia	43
174		MYH012	Myhre Syndrome	43
175	P	ANX007	Anauxetic Dysplasia 1	42
176	c	GLL038	Galloway-Mowat Syndrome 1	42
177		CHR659	Chromosome 22q11.2 Duplication Syndrome	42
178	c	SPN100	Spinocerebellar Ataxia 27	41
179	c	MCR114	Microphthalmia, Isolated 3	41
180		ISL121	Isolated Split Hand-Split Foot Malformation	41
181	c	PTT030	Pitt-Hopkins-Like Syndrome 2	41
182		BLD129	Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	41
183		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	41
184	c	AML057	Amelogenesis Imperfecta, Type Iiia	41
185	P	LTH003	Lethal Congenital Contracture Syndrome	41
186		HYP682	Hypertelorism, Teebi Type	40
187	c	BRD021	Bardet-Biedl Syndrome 9	40
188		VND005	Van Den Ende-Gupta Syndrome	40
189		THR017	Thoracoabdominal Syndrome	40
190		OLV004	Oliver-Mcfarlane Syndrome	40
191	c	CNG033	Congenital Syphilis	40
192	P	MNN007	Meningocele	39
193		FRY002	Fryns Syndrome	39
194	c	SYN059	Syndactyly, Type V	39
195	P	RNG032	Ring Chromosome	39
196		48X005	48,xyyy	39
197	c	GLP004	Geleophysic Dysplasia 2	39
198	c	CNG404	Congenital Heart Defects, Multiple Types, 4	39
199	c	CTR115	Cataract 16, Multiple Types	39
200	P	SYN012	Synpolydactyly	38
201		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	38
202		CLF053	Cleft Palate with or Without Ankyloglossia, X-Linked	38
203	c	DMN006	Diamond-Blackfan Anemia 3	38
204	c	DVL044	Developmental and Epileptic Encephalopathy 16	38
205		CRP035	Corpus Callosum, Partial Agenesis of, X-Linked	38
206		TRP014	Triploidy	38
207	c	HTR021	Heterotaxy, Visceral, 5, Autosomal	38
208		PLC009	Placenta Praevia	38
209	P	TRC031	Trichorhinophalangeal Syndrome	38
210		SCR035	Sacral Agenesis with Vertebral Anomalies	38
211	c	SPL034	Split-Hand/foot Malformation 4	37
212		MCR099	Microlissencephaly	37
213		ALG027	Al-Gazali-Bakalinova Syndrome	37
214	c	SCK010	Seckel Syndrome 4	37
215	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	37
216	c	AML020	Amelogenesis Imperfecta, Type Iv	37
217	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	37
218	c	CTR181	Cataract 18	37
219		PLY100	Polyploidy	36
220		EPP011	Epiphyseal Chondrodysplasia, Miura Type	36
221	c	SYN084	Synpolydactyly 1	36
222	c	PRX055	Peroxisome Biogenesis Disorder 11a	36
223	P	LSS024	Lissencephaly with Cerebellar Hypoplasia	36
224	c	ECT041	Ectodermal Dysplasia-Syndactyly Syndrome 2	36
225	c	DVL052	Developmental and Epileptic Encephalopathy 26	36
226		HYP206	Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	36
227		HYP351	Hypertrichosis Universalis Congenita, Ambras Type	35
228	c	DMN017	Diamond-Blackfan Anemia 10	35
229	c	VNM002	Van Maldergem Syndrome 2	35
230	P	MXD016	Mixed Gonadal Dysgenesis	35
231		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	35
232	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	35
233	P	SYN165	Syndromic Microphthalmia	34
234		CHR381	Chromosome 17q23.1-Q23.2 Deletion Syndrome	34
235		ISL096	Isolated Klippel-Feil Syndrome	34
236		CHR501	Chromosome 17q12 Deletion Syndrome	34
237		EMN001	Emanuel Syndrome	34
238		CHR396	Chromosome 2p16.1-P15 Deletion Syndrome	34
239		MCR355	Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy	34
240	c	BRC075	Brachydactyly, Type A1, C	34
241	c	BTH006	Bethlem Myopathy 2	33
242		ISL109	Isolated Cleft Lip	33
243	c	PK3005	Pik3ca-Related Overgrowth Syndrome	33
244		SDD002	Sudden Infant Death with Dysgenesis of the Testes Syndrome	33
245	P	ACR072	Acrorenal Syndrome	33
246	c	XLN227	X-Linked Chondrodysplasia Punctata 1	33
247	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	33
248		ISL011	Isolated Aniridia	33
249	c	MYS064	Myasthenic Syndrome, Congenital, 16	33
250	c	BRT029	Brittle Cornea Syndrome 2	33
251		PRT049	Partial Deletion of Y	33
252	P	RTS001	Ritscher-Schinzel Syndrome	33
253	c	LTH026	Lethal Congenital Contracture Syndrome 4	33
254		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	33
255		SLF015	Self-Improving Collodion Baby	33
256		BRC004	Brachydactyly-Syndactyly Syndrome	32
257	c	MCR329	Microcephaly, Autosomal Dominant	32
258	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	32
259		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	32
260	c	VCT004	Vacterl Association with Hydrocephalus	32
261	c	MCR322	Microcephaly 18, Primary, Autosomal Dominant	32
262		HYP223	Hypoplastic Right Heart Syndrome	32
263		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	32
264		HYP638	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	32
265	c	PRM022	Primary Syphilis	32
266		MCR321	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	32
267	c	THR069	Three M Syndrome 2	32
268	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	32
269		CHN019	Chand Syndrome	32
270	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	31
271	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	31
272	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
273	c	DMN049	Diamond-Blackfan Anemia 20	31
274		SPN012	Spindle Cell Hemangioma	31
275	c	CTR185	Cataract 30	31
276	c	DVL067	Developmental and Epileptic Encephalopathy 42	31
277	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
278	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	31
279		ANM001	Anemia of Prematurity	31
280	c	ERL002	Early Congenital Syphilis	31
281	c	NNN025	Noonan Syndrome 10	30
282		FCL090	Facial Cleft	30
283		NNT005	Neonatal Candidiasis	30
284	c	RNG004	Ring Chromosome 1	30
285		ATR088	Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects	30
286		CRT069	Cortical Malformations, Occipital	30
287	c	MRG010	Meier-Gorlin Syndrome 3	30
288	c	ICH023	Ichthyosis, Acquired	30
289	c	HTR010	Heterotaxy, Visceral, 4, Autosomal	30
290	c	HYP523	Hypogonadotropic Hypogonadism 14 with or Without Anosmia	30
291		PLY036	Polyembryoma	30
292		INF021	Infant Gynecomastia	30
293	c	SPL025	Split-Hand/foot Malformation 5	30
294	c	SCK032	Seckel Syndrome 6	30
295	c	PLY149	Polydactyly, Preaxial Iv	30
296		AML065	Amelia	29
297		TTR012	Tetrasomy 9p	29
298	c	RNG018	Ring Chromosome 22	29
299		LWR019	Lowry-Wood Syndrome	29
300	c	MCR314	Microcephaly 16, Primary, Autosomal Recessive	29
301		CNG437	Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay	29
302		WRF003	Warfarin Syndrome	29
303		RHM015	Rhombencephalosynapsis	29
304		MCR302	Macrostomia, Isolated	29
305	c	USH030	Usher Syndrome, Type Ik	29
306	c	HYP511	Hypogonadotropic Hypogonadism 15 with or Without Anosmia	29
307	c	MCR259	Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	29
308		CRL006	Caroli Disease, Isolated	28
309	c	AML018	Amelogenesis Imperfecta, Type Ic	28
310	c	PRX091	Peroxisome Biogenesis Disorder 8a	28
311	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	28
312		MTR087	Maternal Uniparental Disomy	28
313	c	DMN005	Diamond-Blackfan Anemia 2	28
314	c	MCR356	Microcephaly 19, Primary, Autosomal Recessive	28
315		HYP728	Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia	28
316	P	ISL029	Isolated Anorectal Malformation	28
317		CHR366	Chromosome 5p13 Duplication Syndrome	28
318		CRP028	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	28
319		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	28
320		MSM016	Mesomelic Dysplasia, Kantaputra Type	28
321		MCR326	Microcephaly-Micromelia Syndrome	27
322	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	27
323		NRL025	Neural Tube Closure Defect	27
324	c	PRX047	Peroxisome Biogenesis Disorder 5b	27
325		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	27
326		NSP016	Nasopalpebral Lipoma-Coloboma Syndrome	27
327	c	HYP532	Hypogonadotropic Hypogonadism 18 with or Without Anosmia	27
328		CBB002	Cobb Syndrome	27
329		CHR209	Chromosome 17p Duplication	27
330		CHR268	Chromosome 8q Duplication	27
331	c	FRN032	Frontonasal Dysplasia 3	27
332	c	PSD107	Pseudo-Torch Syndrome 2	27
333	P	TRS029	Trisomy 1q	27
334		CHR621	Chromosome 16p11.2 Deletion Syndrome, 593-Kb	27
335	c	BRC108	Brachydactyly, Type A3	27
336	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	27
337		49X001	49, Xxxxx	27
338		RCM003	Recombinant Chromosome 8 Syndrome	27
339		CHR498	Chromosome 16p11.2 Duplication Syndrome	27
340	c	DMN019	Diamond-Blackfan Anemia 4	27
341		ISL089	Isolated Scaphocephaly	26
342		SZR027	Seizures, Cortical Blindness, and Microcephaly Syndrome	26
343	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	26
344		BLT009	Bilateral Generalized Polymicrogyria	26
345		DPL007	Duplication of Urethra	26
346	c	DVL091	Developmental and Epileptic Encephalopathy 67	26
347		CDG001	Cdags Syndrome	26
348	P	PST016	Posterior Polar Cataract	26
349	c	CTR110	Cataract 26, Multiple Types	26
350		CHR010	Chorioangioma	26
351		APR009	Aprosencephaly Syndrome	26
352		ATR053	Atresia of Urethra	26
353		THR032	Thoracolaryngopelvic Dysplasia	26
354	P	MCR327	Microcephaly, Short Stature, and Limb Abnormalities	26
355		LMB076	Lumbar Syndrome	25
356	P	ACR093	Acrofrontofacionasal Dysostosis	25
357		NRN022	Neurenteric Cyst	25
358		CHR212	Chromosome 18p Duplication	25
359	c	MCK035	Meckel Syndrome, Type 10	25
360		ULN023	Ulnar Hypoplasia	25
361	c	MRG015	Meier-Gorlin Syndrome 7	25
362	c	CTR116	Cataract 15, Multiple Types	25
363	c	DVL088	Developmental and Epileptic Encephalopathy 64	25
364		HYP717	Hypotonia, Infantile, with Psychomotor Retardation	25
365		CRN266	Craniofacial Dyssynostosis with Short Stature	25
366	c	SYM019	Symphalangism, Proximal, 1b	25
367		ATR017	Atrial Septal Defect Coronary Sinus	25
368	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	25
369		CLF046	Cleft Lip/palate with Abnormal Thumbs and Microcephaly	25
370		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	25
371	c	JBR040	Joubert Syndrome 30	25
372	c	MNS008	Monosomy 21	25
373		GNT043	Genitopalatocardiac Syndrome	25
374	c	MGL028	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	25
375	c	HYP820	Hypogonadotropic Hypogonadism 22 with or Without Anosmia	24
376	c	DVL068	Developmental and Epileptic Encephalopathy 43	24
377	c	TRS012	Trisomy 22	24
378	c	SPN254	Spinocerebellar Ataxia, Autosomal Recessive 11	24
379	c	JBR021	Joubert Syndrome 18	24
380	c	VNT024	Ventricular Septal Defect 3	24
381	c	LTH030	Lethal Congenital Contracture Syndrome 8	24
382	c	BLP049	Blepharocheilodontic Syndrome 2	24
383	c	PK3004	Pik3ca-Related Overgrowth Spectrum	24
384		CMP035	Complete Atrioventricular Canal	24
385	c	CNG521	Congenital Heart Defects, Multiple Types, 5	24
386	c	ORF025	Orofacial Cleft 6	24
387	c	ORF047	Orofacial Cleft 15	24
388	c	LKD027	Leukodystrophy, Hypomyelinating, 14	24
389	c	MCK036	Meckel Syndrome, Type 9	24
390	c	VNT026	Ventricular Septal Defect 2	24
391	c	MCR360	Microcephaly 20, Primary, Autosomal Recessive	24
392	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	23
393		ADD006	Adducted Thumbs Syndrome	23
394		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	23
395	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	23
396	c	SCK037	Seckel Syndrome 9	23
397		SPN228	Spondyloepiphyseal Dysplasia, Nishimura Type	23
398		AXL004	Axial Mesodermal Dysplasia Spectrum	23
399		CHR616	Chromosome 19q13.11 Deletion Syndrome, Distal	23
400		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	23
401		ATR055	Atrial Septal Aneurysm	23
402	c	ACR105	Acrofrontofacionasal Dysostosis 2	23
403	c	HTR020	Heterotaxy, Visceral, 8, Autosomal	23
404		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	22
405	c	ERL044	Early-Onset Posterior Polar Cataract	22
406	P	UNP013	Uniparental Disomy of Chromosome 1	22
407		PLR024	Pilarowski-Bjornsson Syndrome	22
408	c	RNG015	Ring Chromosome 2	22
409		RGH010	Right Ventricular Hypoplasia, Isolated	22
410		SPN446	Spondylometaphyseal Dysplasia with Corneal Dystrophy	22
411	c	CNG616	Congenital Heart Defects, Multiple Types, 7	22
412		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	21
413	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	21
414	c	AML048	Amelogenesis Imperfecta, Type Ih	21
415		TBS009	Teebi-Shaltout Syndrome	21
416		DPR014	Diprosopus	21
417		MNT259	Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies	21
418		MSL005	Mseleni Joint Disease	21
419		INV022	Inverted Duplicated Chromosome 15 Syndrome	21
420		CNG009	Congenital Aortic Valve Stenosis	21
421	c	46X080	46,xx Sex Reversal 5	21
422	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	21
423	c	LTH031	Lethal Congenital Contracture Syndrome 6	21
424		PLV015	Pelvis-Shoulder Dysplasia	21
425		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	21
426	c	OVR119	Ovarian Dysgenesis 7	21
427		CHR620	Chromosome 16p11.2 Deletion Syndrome, 220-Kb	21
428	c	NNP017	Nanophthalmos 1	21
429		MSM019	Mesomelic Dysplasia, Savarirayan Type	21
430		CHR507	Chromosome Xq27.3-Q28 Duplication Syndrome	21
431		CMP077	Composite Hemangioendothelioma	21
432		ERY043	Euryblepharon	21
433	P	PTR018	Paternal Uniparental Disomy of Chromosome 6	21
434	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	21
435	c	HRN024	Horner Syndrome, Congenital	21
436		ACH039	Achalasia-Microcephaly Syndrome	21
437		TTR018	Tetragametic Chimerism	20
438	c	OVR115	Ovarian Dysgenesis 5	20
439		DST045	Distal Trisomy 6p	20
440		INT231	Intellectual Disability - Athetosis - Microphthalmia	20
441	c	46X046	46,xy Sex Reversal 4	20
442		ATK002	Atkin-Flaitz Syndrome	20
443		CLV012	Clavicle, Pseudarthrosis of, Congenital	20
444		MLT173	Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability	20
445		ERL042	Early-Onset Partial Cataract	20
446	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	20
447	c	MGL035	Megalencephaly, Autosomal Dominant	20
448	c	CTR160	Cataract 45	20
449		CRB164	Cerebrooculonasal Syndrome	20
450	c	CTR139	Cataract 42	20
451		NNS061	Non-Syndromic Pontocerebellar Hypoplasia	20
452		CMP039	Camptodactyly 1	20
453		SBP003	Subependymal Nodular Heterotopia	20
454		13Q001	13q12.3 Microdeletion Syndrome	20
455		FBR087	Fibromatosis, Gingival, with Distinctive Facies	20
456		LVC002	Levocardia	20
457		UNL006	Unilateral Focal Polymicrogyria	19
458		SPN349	Spondylometaphyseal Dysplasia, Type A4	19
459	c	BRC105	Brachydactyly, Type A1, D	19
460		PTR034	Paternal Uniparental Disomy	19
461	c	DVL108	Developmental and Epileptic Encephalopathy 86	19
462		XQ2003	Xq25 Duplication Syndrome	19
463		MNS012	Monostotic Fibrous Dysplasia	19
464		CHR416	Chromosome 17q Deletion	19
465		HML054	Hemolytic Disease Due to Fetomaternal Alloimmunization	19
466		SPN353	Spondylometaphyseal Dysplasia, X-Linked	19
467	c	MCR362	Microcephaly 22, Primary, Autosomal Recessive	19
468		CHR584	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb	19
469		DYR002	Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion	19
470	c	RNG025	Ring Chromosome 9	19
471		MTR027	Mitral Atresia	19
472	c	CNG433	Congenital Cornea Plana	19
473	c	RNG019	Ring Chromosome 3	19
474	c	SPN259	Spinocerebellar Ataxia 32	19
475		CRB161	Cerebellar Ataxia and Ectodermal Dysplasia	19
476		PCH004	Pachygyria, Frontotemporal	19
477		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	19
478		EDN001	Edinburgh Malformation Syndrome	18
479		MSC081	Mosaic Trisomy 15	18
480		DBL007	Double Outlet Left Ventricle	18
481		MLT148	Multiple Pterygium Syndrome, X-Linked	18
482		OMP008	Omphalocele-Cleft Palate Syndrome, Lethal	18
483		KNS006	Kniest-Like Dysplasia, Lethal	18
484		CRV062	Cervical Spina Bifida Cystica	18
485		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	18
486	P	CNG070	Congenital Dislocation of the Patella	18
487		PRR029	Pierre Robin Syndrome and Oligodactyly	18
488		NNR005	Non-Rhizomelic Chondrodysplasia Punctata	18
489		1Q4001	1q44 Microdeletion Syndrome	18
490	c	BLT007	Bilateral Frontal Polymicrogyria	18
491	c	46X050	46,xx Sex Reversal 3	18
492	c	MTR062	Maternal Uniparental Disomy of Chromosome 4	18
493		APL028	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	18
494	c	PLY144	Polydactyly, Postaxial, Type A7	18
495		ECT085	Ectopia Cordis	18
496		OCL057	Oculotrichodysplasia	18
497		MSC017	Mosaic Trisomy 22	18
498		ABS020	Absent Eyebrows and Eyelashes with Mental Retardation	18
499	c	DMN048	Diamond-Blackfan Anemia 19	18
500	c	CNG578	Congenital Hemangioma	18
501		CHR182	Chromosome 10p Duplication	18
502		VRR008	Verrucous Hemangioma	18
503		MSM018	Mesomelic Limb Shortening and Bowing	18
504		SMM003	Summitt Syndrome	18
505		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	18
506		LMB056	Lumbosacral Spina Bifida Cystica	18
507		FCL064	Facial Dysmorphism with Multiple Malformations	18
508	c	SM1001	Sim1-Related Prader-Willi-Like Syndrome	17
509		7P2001	7p22.1 Microduplication Syndrome	17
510		CLF047	Cleft-Limb-Heart Malformation Syndrome	17
511		MCD004	Macdermot-Winter Syndrome	17
512		SPR065	Supernumerary Nostril	17
513		16P004	16p13.11 Microduplication Syndrome	17
514		LNS008	Lens Position Anomaly	17
515	c	PTS018	Ptosis, Hereditary Congenital 1	17
516	c	PRG096	Pregnancy Loss, Recurrent 2	17
517		MYL044	Myelocystocele	17
518		HYP479	Hyperinsulinism Due to Hnf4a Deficiency	17
519		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	17
520		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	17
521		DPH023	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull	17
522		FCL087	Facial Infiltrating Lipomatosis	17
523	c	TTL009	Total Spina Bifida Aperta	17
524		MMB012	Membranous Cranial Ossification, Delayed	17
525		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	17
526		CNG491	Congenital Portosystemic Shunt	17
527		DST069	Distal Monosomy 12q	17
528		THY105	Thyrocerebroretinal Syndrome	17
529		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	17
530		PLY134	Polydactyly, Postaxial, with Dental and Vertebral Anomalies	17
531	c	RNG014	Ring Chromosome 19	17
532	c	SYN040	Synpolydactyly 3	17
533	c	MTR061	Maternal Uniparental Disomy of Chromosome 6	17
534		HYD051	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis	16
535	c	HYD042	Hydrocephalus, Autosomal Dominant	16
536		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	16
537		CNG330	Congenital Megacalycosis	16
538		PRN057	Porencephaly, Cerebellar Hypoplasia, and Internal Malformations	16
539		DYS135	Dysphagia Lusoria	16
540		PNH003	Pinheiro Freire-Maia Miranda Syndrome	16
541		14Q001	14q12 Microdeletion Syndrome	16
542		ISL133	Isolated Epispadias	16
543		ERL040	Early-Onset Sutural Cataract	16
544	c	PLY184	Polydactyly, Postaxial, Type A10	16
545		RDL029	Radial Ray Hypoplasia with Choanal Atresia	16
546		NND006	Non-Distal Monosomy 20q	16
547	c	NNS019	Nonsyndromic Holoprosencephaly	16
548	P	ATS469	Autosomal Monosomy	16
549		CLF034	Cleft Hard Palate	16
550		PFF010	Pfeiffer-Palm-Teller Syndrome	16
551		TRS011	Trisomy 2 Mosaicism	16
552		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	16
553	c	MTR067	Maternal Uniparental Disomy of Chromosome 16	16
554	c	PTR011	Paternal Uniparental Disomy of Chromosome 1	16
555		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	16
556		CLD006	Cleidorhizomelic Syndrome	15
557		CYS047	Cystic Fibrosis, Modifier of, 1	15
558	c	ANG028	Angioma Serpiginosum, Autosomal Dominant	15
559	c	ORF029	Orofacial Cleft 13	15
560		PTS017	Ptosis, Strabismus, and Ectopic Pupils	15
561		ECT086	Ectrodactyly-Polydactyly	15
562		PLY132	Polysyndactyly, Crossed	15
563		DSP003	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	15
564		LRS009	Larsen-Like Syndrome, Lethal Type	15
565		FRS011	First Branchial Cleft Anomaly	15
566		46X015	46,xy Ovotesticular Disorder of Sex Development	15
567		ECT087	Ectodermal Dysplasia, Trichoodontoonychial Type	15
568		PRR030	Pierre Robin Sequence with Facial and Digital Anomalies	15
569		1P2001	1p21.3 Microdeletion Syndrome	15
570		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	15
571		AST010	Astley-Kendall Syndrome	15
572		XP2002	Xp22.13p22.2 Duplication Syndrome	15
573		DLT013	Deletion 5q35	14
574		49X004	49,xyyyy Syndrome	14
575		PRT161	Partial Deletion of the Short Arm of Chromosome 3	14
576		RDL028	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema	14
577		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	14
578		PHK006	Phakomatosis Pigmentokeratotica	14
579		CNS012	Cono-Spondylar Dysplasia	14
580	P	CNG600	Congenital Arteriovenous Fistula	14
581		SXC007	Sex-Chromosome Anomaly	14
582		HYP490	Hyperinsulinism Due to Hnf1a Deficiency	14
583		16P005	16p11.2p12.2 Microduplication Syndrome	14
584	c	CNT108	Central Polydactyly	14
585	c	SX2003	Six2-Related Frontonasal Dysplasia	14
586		HYP660	Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	14
587	c	UNP008	Uniparental Disomy of Chromosome 15	14
588		HYP497	Hyperphalangy	14
589		DRM038	Dermotrichic Syndrome	14
590	c	ORF020	Orofacial Cleft 12	14
591		16P011	16p12.1p12.3 Triplication Syndrome	14
592	c	UNP007	Uniparental Disomy of Chromosome 6	14
593		SBM006	Submucosal Cleft Palate	14
594		PRT165	Partial Deletion of the Short Arm of Chromosome 7	14
595		20Q001	20q13.33 Microdeletion Syndrome	14
596		MSC080	Mosaic Trisomy 12	14
597	P	LTH050	Lethal Chondrodysplasia	13
598	c	VSC042	Vesicoureteral Reflux 5	13
599	c	VSC043	Vesicoureteral Reflux 6	13
600		MCR358	Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	13
601	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	13
602		HLL014	Hallux Varus and Preaxial Polysyndactyly	13
603	c	ORF024	Orofacial Cleft 9	13
604		CHR188	Chromosome 11q Duplication	13
605	c	CTR176	Cataract, Age-Related Nuclear	13
606		CRY037	Cryptophthalmia	13
607		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	13
608		ART130	Arthrogryposis with Hyperkeratosis	13
609		GZR001	Guizar Vasquez Sanchez Manzano Syndrome	13
610		PRT184	Partial Deletion of the Long Arm of Chromosome 11	13
611		ACC011	Accessory Mitral Valve Tissue	13
612		CLF019	Cleft Palate Short Stature Vertebral Anomalies	13
613		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	13
614		VRT011	Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis	13
615		URC012	Urachal Sinus	13
616		MDR001	Medeira-Dennis-Donnai Syndrome	13
617		MCR295	Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	13
618		DST054	Distal 17p13.3 Microdeletion Syndrome	13
619		20Q002	20q11.2 Microduplication Syndrome	13
620		FNG014	Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature	13
621		ANN015	Anonychia with Flexural Pigmentation	13
622	c	PRV013	Periventricular Nodular Heterotopia 3	13
623		ATX036	Ataxia-Photosensitivity-Short Stature Syndrome	13
624	P	CNG326	Congenital Primary Megaureter	12
625		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	12
626		PRT087	Parietal Encephalocele	12
627		XQ1001	Xq12-Q13.3 Duplication Syndrome	12
628		CRN087	Craniomicromelic Syndrome	12
629		PST111	Posterior Fossa Malformation	12
630		LPM011	Lip, Median Nodule of Upper	12
631		CRN204	Craniofacial Conodysplasia	12
632	c	MTR057	Maternal Uniparental Disomy of Chromosome X	12
633		PRT213	Partial Duplication of Chromosome 19	12
634		CRP029	Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	12
635		CNG519	Congenital Gerbode Defect	12
636		PRC041	Pericardial and Diaphragmatic Defect	12
637		MCR285	Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	12
638		MTR084	Maternal Hyperthermia-Induced Birth Defects	12
639		PRT186	Partial Duplication of the Long Arm of Chromosome X	12
640		XLN156	X-Linked Intellectual Disability, Golabi-Ito-Hall Type	12
641	c	UNP004	Uniparental Disomy of Chromosome 2	12
642		INT294	Intellectual Disability-Short Stature-Hypertelorism Syndrome	12
643	c	PRM168	Primary Syringomyelia	11
644	P	ISL045	Isolated Focal Cortical Dysplasia Type I	11
645		THR083	Third Branchial Cleft Anomaly	11
646		XLN142	X-Linked Intellectual Disability, Stevenson Type	11
647		GLS016	Glossopalatine Ankylosis	11
648		TNN014	Tunnel Subaortic Stenosis	11
649	c	EZH001	Ezh2-Related Overgrowth	11
650		LTR017	Lateral Facial Cleft	11
651		SBC038	Sub-Cortical Nodular Heterotopia	11
652		FRY005	Fryns Smeets Thiry Syndrome	11
653		DYS208	Dysostosis with Brachydactyly	11
654		TRC112	Trochlea of the Humerus, Aplasia of	11
655		ACR121	Acromelic Dysplasia	11
656		CRV060	Cervical Dermoid Cyst	11
657		DPL010	Duplication of the Esophagus	11
658	c	ISL040	Isolated Focal Cortical Dysplasia Type Ia	11
659		46X040	46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome	11
660		MSC084	Mosaic Genome-Wide Paternal Uniparental Disomy	11
661		MSC088	Mosaic Trisomy 5	10
662		CNG575	Congenital Joint Dislocations	10
663		PRT163	Partial Deletion of the Short Arm of Chromosome 5	10
664		MSC087	Mosaic Trisomy 4	10
665		SXC004	Sex Chromosome Disorder of Sex Development	10
666		HYP852	Hypocalcemic Rickets	10
667	c	CHR232	Chromosome 21, Uniparental Disomy	10
668		ODN004	Odonto Onycho Dysplasia with Alopecia	10
669		PRT138	Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	10
670		ISC019	Ischiovertebral Syndrome	10
671	c	PTR015	Paternal Uniparental Disomy of Chromosome X	10
672		CNG244	Congenital Laryngeal Cyst	10
673		PRT144	Partial Deletion of Chromosome 2	10
674		CNG279	Congenital Pseudoarthrosis of the Ulna	10
675		PRT185	Partial Deletion of the Long Arm of Chromosome 13	10
676	c	HVP001	Hivep2-Related Intellectual Disability	10
677		CRN310	Cranial Malformation	10
678		SYM014	Symbrachydactyly of Hands and Feet	10
679		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	10
680		DST078	Distal Trisomy 6q	10
681	c	EDR001	Eed-Related Overgrowth	10
682		XLN207	X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome	10
683	c	PTR019	Paternal Uniparental Disomy of Chromosome 5	10
684		PRT162	Partial Deletion of the Short Arm of Chromosome 6	9
685	c	PRT205	Partial Trisomy of the Long Arm of Chromosome 5	9
686	c	LRY051	Laryngotracheoesophageal Cleft Type 1	9
687	c	CHR201	Chromosome 16, Uniparental Disomy	9
688		LWR014	Lower Limb Hypertrophy	9
689		DST085	Distal Trisomy 2q	9
690		PRT153	Partial Deletion of Chromosome 11	9
691		MCR184	Macrodactyly of Fingers	9
692		CNG278	Congenital Pseudoarthrosis of the Radius	9
693		PRT202	Partial Duplication of the Long Arm of Chromosome 6	9
694		DYS128	Dysplasia of Head of Femur, Meyer Type	9
695		ISL049	Isolated Dandy-Walker Malformation Without Hydrocephalus	9
696	c	UNP010	Uniparental Disomy of Chromosome 13	9
697	P	HRN027	Hernia, Anterior Diaphragmatic	9
698		PRT179	Partial Deletion of the Long Arm of Chromosome 6	9
699	c	ATS403	Autosomal Dominant Intellectual Disability 40	9
700		MLH001	Melhem Fahl Syndrome	9
701		SYN027	Syngnathia Cleft Palate	9
702		MLT171	Multiple Epiphyseal Dysplasia and Pseudoachondroplasia	9
703		ATS453	Autosomal Anomaly	9
704		PRT169	Partial Deletion of the Short Arm of Chromosome 11	9
705		PRT236	Partial Deletion of the Long Arm of Chromosome 15	9
706		2P2002	2p21 Microdeletion Syndrome Without Cystinuria	9
707		ECT107	Ectasia of the Left Atrial Appendage	9
708		PRT159	Partial Deletion of the Short Arm of Chromosome 1	9
709		PRT218	Partial Duplication of the Short Arm of Chromosome 3	9
710		ISL047	Isolated Unilateral Hemispheric Cerebellar Hypoplasia	8
711		PRS112	Persistent Eustachian Valve	8
712		PRT207	Partial Duplication of the Short Arm of Chromosome 7	8
713		PRT219	Partial Duplication of the Short Arm of Chromosome 6	8
714	c	BRC035	Brachydactyly Type A5	8
715		PRT166	Partial Deletion of the Short Arm of Chromosome 10	8
716		PRT145	Partial Deletion of Chromosome 3	8
717		PRT167	Partial Deletion of the Short Arm of Chromosome 9	8
718		PRT208	Partial Duplication of the Short Arm of Chromosome 8	8
719		PRT239	Partial Deletion of the Long Arm of Chromosome 18	8
720		TRG018	Trigonocephaly-Broad Thumbs Syndrome	8
721		3Q2004	3q26 Microduplication Syndrome	8
722		DST090	Distal Trisomy 2p	8
723		PRT230	Partial Duplication of Chromosome 3	8
724		PRT225	Partial Duplication of Chromosome 17	8
725		CNG334	Congenital Esophageal Diverticulum	8
726		CNG586	Congenital Tricuspid Valve Dysplasia	8
727		ISL028	Isolated Cerebellar Vermis Hypoplasia	8
728		ISL108	Isolated Splenogonadal Fusion	8
729	c	ATS360	Autosomal Recessive Intellectual Disability 58	7
730		BLK004	Blake Pouch Cyst	7
731		PRT226	Partial Duplication of Chromosome 16	7
732		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	7
733	P	VRC007	Varicella, Severe Recurrent	7
734		PRT199	Partial Duplication of the Long Arm of Chromosome 13	7
735	P	ISC012	Isochromosome Y	7
736		PRT151	Partial Deletion of Chromosome 16	7
737		PRT154	Partial Deletion of Chromosome 18	7
738	c	KRN003	Kernicterus Due to Isoimmunization	7
739		PRT175	Partial Deletion of the Long Arm of Chromosome 2	7
740	c	PRT182	Partial Monosomy of the Long Arm of Chromosome 9	7
741		DST087	Distal Trisomy 7p	7
742		ISL034	Isolated Megalencephaly	7
743		BPR001	Bipartite Talus	7
744		CNG107	Congenital Mitral Malformation	6
745		MLF005	Malformation Syndrome with Short Stature	6
746		14Q003	14q11.2 Microduplication Syndrome	6
747	c	PRT190	Partial Trisomy of the Long Arm of Chromosome 18	6
748	c	MTR079	Maternal Uniparental Disomy of Chromosome 13	6
749		DST088	Distal Trisomy 1p36	6
750		ART161	Aortic Malformation	6
751		BNL004	Benallegue Lacete Syndrome	6
752	c	CRB128	Cerebrofacial Arteriovenous Metameric Syndrome Type 1	6
753		PRT150	Partial Deletion of the Long Arm of Chromosome 12	6
754		PRT216	Partial Trisomy of Chromosome 20	6
755		PRT223	Partial Duplication of Chromosome 11	6
756		PRT242	Partial Deletion of the Long Arm of Chromosome 21	6
757		DST058	Distal Monosomy 12p	6
758		CNG287	Congenital Absence of Both Forearm and Hand	6
759		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
760		1P3003	1p35.2 Microdeletion Syndrome	6
761		DST075	Distal Trisomy 16q	6
762	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	6
763		DZX005	Diazoxide-Resistant Hyperinsulinism	6
764		UPP009	Upper Limb Hypertrophy	6
765		HMR031	Humeral Agenesis/hypoplasia	6
766		7Q3001	7q31 Microdeletion Syndrome	6
767		OKH001	Okihiro Syndrome Due to a Point Mutation	6
768		PRT222	Partial Duplication of Chromosome 8	6
769	c	LRY048	Laryngotracheoesophageal Cleft Type 0	6
770	c	PTR020	Paternal Uniparental Disomy of Chromosome 20	6
771	c	PTR022	Paternal Uniparental Disomy of Chromosome 7	6
772		DZX004	Diazoxide-Sensitive Diffuse Hyperinsulinism	5
773		PRT141	Partial Deletion of Chromosome 1	5
774		PRT158	Partial Deletion of the Short Arm of Chromosome 2	5
775		PRT168	Partial Deletion of the Short Arm of Chromosome 16	5
776		PRT172	Partial Deletion of the Short Arm of Chromosome 19	5
777		PRT176	Partial Deletion of the Long Arm of Chromosome 3	5
778		PRT192	Partial Duplication of the Long Arm of Chromosome 22	5
779		PRT098	Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome	5
780		DST083	Distal Trisomy 9q	5
781		CHR512	Cheirospondyloenchondromatosis	5
782		DSC011	Discrete Fibromuscular Subaortic Stenosis	5
783		SYN148	Syndromic Aniridia	5
784		MLF009	Malformation of the Cerebellar Vermis	5
785		PRS138	Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium	5
786		PRT148	Partial Deletion of Chromosome 6	5
787		PRT155	Partial Deletion of Chromosome 17	5
788		PRT229	Partial Duplication of Chromosome 2	5
789		SYN096	Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication	5
790		PHK010	Phakomatosis Spilorosea	5
791		PRT249	Partial Autosomal Monosomy	5
792		DST067	Distal Monosomy 14q	5
793		PRT253	Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia	5
794	c	HYP851	Hypotonia-Cystinuria Type 1 Syndrome	5
795		PRT195	Partial Duplication of the Long Arm of Chromosome 8	5
796		PRT198	Partial Duplication of the Long Arm of Chromosome 14	5
797		PRT240	Partial Deletion of the Long Arm of Chromosome 19	5
798	c	ISL039	Isolated Focal Cortical Dysplasia Type Ic	5
799		2P1003	2p13.2 Microdeletion Syndrome	5
800		PRT109	Partially Involuting Congenital Hemangioma	5
801		MCR280	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	5
802		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	5
803		DST073	Distal Monosomy 7p	5
804		CNG353	Congenital Partial Agenesis of Pericardium	5
805		CNG537	Congenital Anomaly of the Tricuspid Valve Chordae	5
806		ISL079	Isolated Encephalocele	5
807		NNT001	Neonatal Infective Mastitis	5
808		SYN097	Syndromic Urogenital Tract Malformation	5
809	c	LSS023	Lissencephaly with Cerebellar Hypoplasia Type C	5
810	c	CHR251	Chromosome 5, Uniparental Disomy	4
811		OPN003	Open Iniencephaly	4
812		CLS021	Closed Iniencephaly	4
813		SYN168	Syndrome with a Cerebellar Malformation As a Major Feature	4
814		SYN143	Syndromic Telecanthus	4
815		ATR096	Atrioventricular Valve Anomaly	4
816		LWM001	Low Implantation of Placenta	4
817	c	TSS003	Tessier Number 6 Facial Cleft	4
818		MCR188	Macrodactyly of Fingers, Unilateral	4
819		MCR190	Macrodactyly of Toes, Unilateral	4
820		CDL007	Caudal Regression-Sirenomelia Spectrum	4
821		4Q2002	4q25 Proximal Deletion Syndrome	4
822		MLT175	Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability	4
823	c	CNG593	Congenital Mitral Valve Insufficiency and/or Stenosis	4
824		PRT210	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18	4
825		PRT220	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5	4
826		ISL046	Isolated Bilateral Hemispheric Cerebellar Hypoplasia	4
827		ISL051	Isolated Partial Cerebellar Vermis Agenesis	4
828		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	4
829		CNG269	Congenital Primary Megaureter, Refluxing Form	4
830		CNG270	Congenital Primary Megaureter, Obstructed Form	4
831		46X066	46,xy Disorder of Sex Development of Endocrine Origin	4
832		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	4
833		CNG569	Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature	4
834		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	4
835		RDL019	Radio-Ulnar Synostosis, Unilateral	4
836		HMR037	Humero-Ulnar Synostosis, Bilateral	4
837		APR011	Aprosencephaly/atelencephaly Spectrum	4
838		ISL130	Isolated Congenital Entropion	4
839		TRC084	Tricuspid Valve Agenesis	4
840		MLF008	Malformation of the Cerebellar Hemispheres	4
841		OTH025	Other Syndrome with Lissencephaly As a Major Feature	4
842	c	XND001	X and Y Chromosomal Anomaly	4
843		CNG606	Congenital Aortic Valve Dysplasia	4
844	c	CTR008	Cataract Congenital Autosomal Dominant	4
845		HYP178	Hyperthermia Induced Defects	4
846	c	XCH002	X Chromosome Number Anomaly	4
847		PRT233	Partial Duplication of Chromosome 6	4
848		HMZ005	Homozygous 2p21 Microdeletion Syndrome	4
849		CNG316	Congenital Vertical Talus, Bilateral	4
850		MCR189	Macrodactyly of Toes, Bilateral	4
851		46X078	46,xx Disorder of Sex Development Induced by Androgens Excess	4
852		SYN162	Syndromic Esophageal Malformation	4
853	c	CRN093	Craniosynostosis Autosomal Dominant	3
854	c	SYN028	Syngnathia Multiple Anomalies	3
855	c	INT350	Intermediate Isolated Anorectal Malformation	3
856		SYN102	Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature	3
857		SYN166	Syndrome with a Dandy-Walker Malformation As a Major Feature	3
858		46X064	46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors	3
859		JNT005	Joint Formation Defects	3
860		AML036	Amelia of Lower Limb	3
861		ISL127	Isolated Blepharochalasis	3
862		ISL132	Isolated Megalopapilla	3
863		ANT090	Anterior Segment Developmental Abnormality with Extraocular Manifestations	3
864		BCK016	Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication	3
865		STR076	Straddling and/or Overriding Mitral Valve	3
866		CNG360	Congenital Unguarded Mitral Orifice	3
867		SYN145	Syndromic Epicanthus	3
868		ANT094	Anterior Segment Developmental Anomaly Without Extraocular Manifestations	3
869	c	GLC033	Glaucoma, Hereditary Adult Type 1a	3
870	c	FRG006	Fragile X Syndrome Type 3	3
871	c	OCL037	Oculodentodigital Dysplasia Dominant	3
872	c	HYD017	Hydrocephalus Autosomal Recessive	3
873		PRL049	Paralytic Facial Malformation	3
874	P	YCH005	Y Chromosome Number Anomaly	3
875		CNG317	Congenital Genu Flexum	3
876		CNG321	Congenital Elbow Dislocation, Bilateral	3
877		CNG322	Congenital Elbow Dislocation, Unilateral	3
878	c	TTL013	Total Autosomal Trisomy	3
879		SXC005	Sex-Chromosome Number Anomaly	3
880	P	CHR690	Chromosome Y Structural Anomaly	3
881		MLF007	Malformation Syndrome with Hamartosis	3
882		NNS065	Non-Syndromic Diaphragmatic or Abdominal Wall Malformation	3
883	c	BMN003	Biemond Syndrome Type 1	3
884		NNS049	Non-Syndromic Uterovaginal Malformation	3
885		GLP005	Glioependymal/ependymal Cyst	3
886		DYS201	Dysostosis with Limb and Face Anomalies As a Major Feature	3
887		SYN119	Syndrome with Limb Duplication, Polydactyly, Syndactyly, and/or Hyperphalangy	3
888		DYS206	Dysostosis with Brachydactyly with Extraskeletal Manifestations	3
889		NNS056	Non-Syndromic Complex Polydactyly	3
890		CMP099	Complete Hemimelia	3
891		DYS210	Dysostosis with Predominant Craniofacial Involvement	3
892		CLD020	Cleidocranial Dysplasia and Isolated Cranial Ossification Defect	3
893		SYN142	Syndrome with Synostosis or Other Joint Formation Defect	3
894		MSM021	Mesomelic and Rhizo-Mesomelic Dysplasia	3
895		NNS052	Non-Syndromic Urogenital Tract Malformation of Male and Female	2
896		SYN107	Syndrome or Malformation Associated with Head and Neck Malformations	2
897		XCH001	X Chromosome Number Anomaly with Male Phenotype	2
898		XCH003	X Chromosome Number Anomaly with Female Phenotype	2
899		NNS053	Non Syndromic Limb Overgrowth	2
900		CHR693	Chromosomal Disease with Overgrowth	2
901		NNS066	Non-Syndromic Visceral Malformation	2
902		NNS069	Non-Syndromic Esophageal Malformation	2
903		EMB004	Embryonal Carcinoma	56
904	c	WLM013	Wilms Tumor 1	66
905	c	WLM018	Wilms Tumor 5	53
906	P	HRD009	Hereditary Wilms' Tumor	28
907	c	FML094	Familial Wilms Tumor 2	25
908	c	WLM011	Wilms Tumor 6	25
909	c	WLM005	Wilms Tumor 2	25
910	c	WLM017	Wilms Tumor 4	18
911	c	WLM015	Wilms Tumor 3	17
912	P	FTL033	Fetal Hemoglobin Quantitative Trait Locus 1	42
913	c	FTL067	Fetal Hemoglobin Quantitative Trait Locus 6	25
914	P	CNT003	Central Nervous System Embryonal Carcinoma	10
915		DFN191	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	22
916	c	FTL065	Fetal Hemoglobin Quantitative Trait Locus 5	16
917	P	EPN001	Ependymoblastoma	44
918	c	ADL045	Adult Ependymoblastoma	14
919		TRT001	Teratocarcinoma	42
920	P	END039	Endodermal Sinus Tumor	41
921	c	ADL047	Adult Endodermal Sinus Tumor	7
922	P	LFT003	Left Ventricular Noncompaction	57
923		FTL012	Fetal and Neonatal Alloimmune Thrombocytopenia	44
924	c	LFT021	Left Ventricular Noncompaction 1	44
925	c	PRS122	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	38
926		EMB002	Embryoma	37
927	P	BTR001	Botryoid Rhabdomyosarcoma	36
928	c	LFT018	Left Ventricular Noncompaction 10	28
929	c	LFT017	Left Ventricular Noncompaction 8	27
930	c	LFT020	Left Ventricular Noncompaction 7	19
931	c	LFT011	Left Ventricular Noncompaction 2	17
932	c	FTL036	Fetal Hemoglobin Quantitative Trait Locus 2	16
933	c	PRS137	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	11
934	c	ADL031	Adult Botryoid Rhabdomyosarcoma	7
935	c	HYD046	Hydatidiform Mole, Recurrent, 1	59
936		GRM005	Germ Cell Cancer	46
937		EMB007	Embryonal Sarcoma	40
938	P	RCR026	Recurrent Hydatidiform Mole	26
939		PRV001	Parovarian Cyst	22
940		HRD183	Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome	22
941		CNT115	Central Nervous System Embryonal Tumor	21
942		WLL022	Well-Differentiated Fetal Adenocarcinoma of the Lung	16
943		HYD069	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism	10
944		CHL030	Childhood Botryoid Rhabdomyosarcoma	8
945		RRG014	Rare Genetic Developmental Defect During Embryogenesis	5
946		EMB017	Embryonal Tumor of Neuroepithelial Tissue	3
947		FTL017	Fetal Enterovirus Syndrome	2
948		NRL016	Neural Tube Defects	81
949		PHN003	Phenylketonuria	76
950	P	OST002	Osteoporosis	76
951	P	OST001	Osteopetrosis	71
952	c	MYT021	Myotonic Dystrophy 1	68
953	P	RTH006	Rothmund-Thomson Syndrome, Type 2	67
954		YMN001	Yemenite Deaf-Blind Hypopigmentation Syndrome	66
955	c	CNG012	Congenital Generalized Lipodystrophy	65
956	P	KBK002	Kabuki Syndrome 1	65
957	P	ANG001	Angelman Syndrome	65
958		ART001	Arterial Tortuosity Syndrome	65
959	P	CRN038	Carney Complex Variant	64
960		ANG020	Angiosarcoma	64
961	P	TRC072	Treacher Collins Syndrome 1	62
962	c	INT072	Intestinal Pseudo-Obstruction	62
963		HJD001	Hajdu-Cheney Syndrome	62
964	P	BTH005	Bethlem Myopathy 1	62
965	P	HYD006	Hydrocephalus	61
966	c	CRN139	Cornelia De Lange Syndrome 1	61
967		OST024	Osteoporosis-Pseudoglioma Syndrome	60
968	c	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	59
969	P	RBL001	Rubella	58
970	P	LKD017	Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism	58
971		RGH009	Right Atrial Isomerism	57
972		CRN005	Craniofrontonasal Syndrome	57
973		HRL004	Hurler-Scheie Syndrome	57
974		DBL002	Double Outlet Right Ventricle	57
975	c	VSC019	Vesicoureteral Reflux 1	57
976		PLC005	Placental Insufficiency	56
977		ANS023	Anus, Imperforate	56
978	c	PRX059	Peroxisome Biogenesis Disorder 1a	56
979	P	AML002	Amelogenesis Imperfecta	56
980	P	MLT007	Multiple Epiphyseal Dysplasia	56
981	P	PSD015	Pseudohypoparathyroidism	55
982		PYC001	Pycnodysostosis	55
983	c	HYP292	Hypophosphatasia, Infantile	55
984	c	CRN278	Craniosynostosis 1	55
985	P	ATR001	Atrioventricular Septal Defect	55
986		CMP034	Complete Androgen Insensitivity Syndrome	55
987		DXT001	Dextrocardia	55
988	P	CCH009	Coach Syndrome 1	54
989	P	CNT116	Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a	54
990		TRC109	Tracheoesophageal Fistula with or Without Esophageal Atresia	54
991		OCC006	Occipital Horn Syndrome	54
992	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	54
993		CLB010	Coloboma of Macula	53
994	c	WRD033	Waardenburg Syndrome, Type 2e	53
995	c	CNG216	Congenital Hydrocephalus	53
996	c	SPN294	Spinocerebellar Ataxia 1	53
997	c	AML044	Amelogenesis Imperfecta, Type Ig	53
998	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	53
999		NNT012	Neonatal Jaundice	53
1000		LTR009	Lateral Meningocele Syndrome	53
1001	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	53
1002	P	CRN276	Corneal Endothelial Dystrophy	53
1003		OCL039	Oculoectodermal Syndrome	52
1004		MCR165	Microphthalmia with Limb Anomalies	52
1005		NRL002	Neurilemmomatosis	52
1006	c	46X082	46,xy Sex Reversal	52
1007		MLB001	Mulibrey Nanism	52
1008	P	PRS049	Persistent Mullerian Duct Syndrome	52
1009	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	52
1010	c	HYD064	Hydrocephalus, Congenital, 1	51
1011	c	HYP293	Hypophosphatasia, Adult	51
1012	c	PNC106	Pancreatic Agenesis 1	51
1013	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	51
1014		ACR013	Acrodysostosis	51
1015	P	JVN008	Juvenile Glaucoma	50
1016		LPD016	Lipoid Proteinosis of Urbach and Wiethe	50
1017		WYR002	Weyers Acrofacial Dysostosis	50
1018		ACR043	Acromicric Dysplasia	50
1019		VTR016	Vater/vacterl Association	49
1020		PLM070	Pulmonic Stenosis	49
1021		ACR002	Acrocapitofemoral Dysplasia	49
1022		DND001	Dandy-Walker Syndrome	49
1023		BHR002	Bohring-Opitz Syndrome	48
1024	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	48
1025	P	BNM029	Bone Mineral Density Quantitative Trait Locus 15	48
1026	c	BRC081	Brachydactyly, Type C	48
1027	c	ACH033	Achondrogenesis, Type Ia	48
1028	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	48
1029		47X002	47,xyy	48
1030	c	DSB006	Desbuquois Dysplasia 1	48
1031		MTC018	Metachondromatosis	48
1032	P	OMP004	Omphalocele	48
1033	c	NNN010	Noonan Syndrome 3	47
1034		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	47
1035	c	SCL045	Sclerosteosis 1	47
1036	c	NNN028	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1	47
1037		OST062	Osteoarthritis with Mild Chondrodysplasia	47
1038		DYG001	Dyggve-Melchior-Clausen Disease	47
1039		CKT002	Cakut	47
1040		BNT003	Bent Bone Dysplasia Syndrome	46
1041		ECT007	Ectodermal Dysplasia/skin Fragility Syndrome	46
1042		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	46
1043	c	HYP543	Hypoplastic Left Heart Syndrome 1	46
1044	P	CRN231	Corneal Dystrophy, Posterior Polymorphous, 1	46
1045		LRN006	Laurin-Sandrow Syndrome	46
1046		MDD010	Middle Ear Disease	46
1047	c	HLP016	Holoprosencephaly 11	46
1048	c	BRT050	Bartter Syndrome, Type 2, Antenatal	46
1049	c	XLN229	X-Linked Chondrodysplasia Punctata 2	46
1050		CHR222	Chromosome 1p36 Deletion Syndrome	45
1051	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	45
1052	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	45
1053	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	45
1054	c	ZLL011	Zellweger Spectrum Disorder	45
1055	c	XFP001	Xfe Progeroid Syndrome	45
1056		ABR009	Abruzzo-Erickson Syndrome	45
1057		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	44
1058	c	JBR024	Joubert Syndrome 14	44
1059		ACR011	Acromesomelic Dysplasia, Maroteaux Type	44
1060	c	DFN136	Deafness, Autosomal Dominant 9	44
1061		MCR096	Macrocephaly/autism Syndrome	44
1062	c	DVL034	Developmental and Epileptic Encephalopathy 3	44
1063		DYS018	Dysostosis	44
1064		SCH030	Schneckenbecken Dysplasia	44
1065	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	44
1066	P	EPT020	Epithelioid Hemangioendothelioma	44
1067		BLD170	Bladder Exstrophy and Epispadias Complex	43
1068	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	43
1069	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	43
1070	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	43
1071		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	43
1072		ARC008	Auriculo-Condylar Syndrome	43
1073		BRT046	Baraitser-Winter Cerebrofrontofacial Syndrome	43
1074	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	43
1075	c	BRT052	Bartter Syndrome, Type 1, Antenatal	43
1076	P	CRN013	Craniodiaphyseal Dysplasia	43
1077		CRB142	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant	43
1078		STL007	Steel Syndrome	42
1079	c	WRB004	Warburg Micro Syndrome 3	42
1080		CHR667	Chromosome 3pter-P25 Deletion Syndrome	42
1081		CLF056	Cleft Lip with or Without Cleft Palate	42
1082	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	42
1083	c	WLL036	Weill-Marchesani Syndrome 1	42
1084	c	OST118	Osteogenesis Imperfecta, Type Viii	42
1085	P	CRN074	Coronary Artery Aneurysm	42
1086		NVL003	Nivelon-Nivelon-Mabille Syndrome	42
1087	c	OST106	Osteopetrosis, Autosomal Recessive 8	41
1088		HMH004	Hemihyperplasia, Isolated	41
1089		GNT031	Genitopatellar Syndrome	41
1090		ELS006	Elsahy-Waters Syndrome	41
1091	P	CHR342	Chiari Malformation	41
1092	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	41
1093	P	WRB001	Warburg Micro Syndrome	41
1094	c	EPD071	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	41
1095		END059	Endocrine-Cerebroosteodysplasia	41
1096	P	OTF004	Otofaciocervical Syndrome 1	41
1097		TTH004	Tethered Spinal Cord Syndrome	41
1098	c	BRC052	Brachydactyly, Type B2	40
1099	c	46X055	46,xy Sex Reversal 3	40
1100	P	HRD086	Hereditary Hypophosphatemic Rickets	40
1101		49X006	49, Xxxxy Syndrome	40
1102	c	SCL042	Sclerosteosis 2	40
1103		LCR013	Lacrimal Duct Defect	40
1104	P	MCR364	Macrodactyly	40
1105		CHR518	Chromosome 9p Deletion Syndrome	40
1106	c	HNF003	Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease	40
1107		MJD001	Majeed Syndrome	40
1108		BLR027	Blue Rubber Bleb Nevus	40
1109	c	MCR312	Microphthalmia, Syndromic 10	40
1110	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	39
1111		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	39
1112	c	ANT085	Anterior Segment Dysgenesis 5	39
1113		EKN001	Eiken Syndrome	39
1114		OLG021	Oligomeganephronia	39
1115		CRP033	Corpus Callosum, Agenesis of, with Abnormal Genitalia	39
1116		VNT030	Ventriculomegaly with Cystic Kidney Disease	39
1117		HMM004	Hamamy Syndrome	39
1118	c	MCR122	Microphthalmia, Isolated 5	39
1119	c	MSC098	Muscular Dystrophy-Dystroglycanopathy , Type C, 14	39
1120		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	39
1121	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	38
1122		VLP002	Valproate Embryopathy	38
1123	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	38
1124		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	38
1125	c	PGT007	Paget Disease of Bone 3	38
1126	P	MTP001	Metaphyseal Dysplasia	38
1127	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	38
1128		CLF028	Cleft Soft Palate	38
1129	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	38
1130		TRG019	Trigonocephaly with Short Stature and Developmental Delay	38
1131	c	LSS010	Lissencephaly 4	38
1132		HLZ001	Holzgreve Syndrome	38
1133	c	LSS009	Lissencephaly 3	38
1134	c	NNN009	Noonan Syndrome 2	38
1135		CRD017	Cardiac Valvular Dysplasia, X-Linked	38
1136		ISL062	Isolated Plagiocephaly	37
1137	c	DNT021	Dent Disease 2	37
1138	c	BRC080	Brachydactyly, Type A1, B	37
1139	c	PLM149	Palmoplantar Keratoderma and Congenital Alopecia 2	37
1140	c	DNR003	Duane Retraction Syndrome 1	37
1141	P	ACR106	Acrocephalopolysyndactyly Type Iii	37
1142		CHR387	Chromosome Xp21 Deletion Syndrome	37
1143		CHR590	Chromosome 15q11-Q13 Duplication Syndrome	36
1144	c	ORF038	Orofaciodigital Syndrome Iii	36
1145	P	OVR075	Ovarian Dysgenesis 1	36
1146	c	SCN006	Secondary Syphilis	36
1147	P	ANT061	Antenatal Bartter Syndrome	36
1148	c	SPL033	Split-Hand/foot Malformation 6	36
1149		BLR028	Biliary Atresia, Extrahepatic	36
1150		ISL087	Isolated Oxycephaly	36
1151	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	36
1152	c	DVL050	Developmental and Epileptic Encephalopathy 24	36
1153		NNT004	Neonatal Respiratory Failure	36
1154	P	MSC002	Muscular Dystrophy-Dystroglycanopathy	35
1155		GST052	Gestational Choriocarcinoma	35
1156	c	DFN114	Deafness, Autosomal Recessive 67	35
1157	c	PNT033	Pontocerebellar Hypoplasia, Type 10	35
1158	c	DFN182	Deafness, Autosomal Recessive 71	35
1159	c	MYS067	Myasthenic Syndrome, Congenital, 22	35
1160	P	BRC003	Brachyolmia	35
1161		MHR002	Mohr Syndrome	35
1162	c	MYS056	Myasthenic Syndrome, Congenital, 17	35
1163	c	DFN269	Deafness, Autosomal Recessive 98	35
1164	c	CRN146	Corneal Dystrophy, Posterior Polymorphous, 3	35
1165		RFM001	Roifman Syndrome	35
1166	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	35
1167	c	MNS014	Monosomy 22	35
1168		DYS048	Dysplasia Epiphysealis Hemimelica	35
1169		ACR016	Acromesomelic Dysplasia	35
1170	c	CTR145	Cataract 44	35
1171		CHR589	Chromosome 17p13.3, Centromeric, Duplication Syndrome	35
1172		CHR225	Chromosome 1q21.1 Duplication Syndrome	34
1173	c	PGT009	Paget Disease of Bone 2, Early-Onset	34
1174		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	34
1175	c	WLL037	Weill-Marchesani Syndrome 2	34
1176	c	CTR183	Cataract 38	34
1177		GBR007	Gabriele-De Vries Syndrome	34
1178	P	ATL001	Atelosteogenesis	34
1179		MTP028	Metaphyseal Dysplasia, Spahr Type	34
1180	P	CHR084	Chromosomal Disease	34
1181		PST063	Postsynaptic Congenital Myasthenic Syndromes	34
1182	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	34
1183	c	46X057	46,xy Sex Reversal 8	34
1184	c	SMT018	Smith-Mccort Dysplasia 2	34
1185		WTT002	Witteveen-Kolk Syndrome	34
1186		CNG429	Congenital Myasthenic Syndromes with Glycosylation Defect	33
1187	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	33
1188		DFN358	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia	33
1189	c	TBL032	Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	33
1190		MYP038	Myopathy, Congenital, Compton-North	33
1191	c	DFN095	Deafness, Autosomal Recessive 25	33
1192	c	ADM007	Adams-Oliver Syndrome 2	33
1193	c	LTC001	Late Congenital Syphilis	33
1194		MSC020	Mosaic Trisomy 8	32
1195		CLF049	Cleft Lip and Alveolus	32
1196	P	PLM182	Pulmonary Hypoplasia, Primary	32
1197	P	SCL047	Sclerocornea	32
1198	c	CRT074	Cortical Dysplasia, Complex, with Other Brain Malformations 6	32
1199	c	ICH045	Ichthyosis, Congenital, Autosomal Recessive 7	32
1200		CHR568	Chromosome 6q24-Q25 Deletion Syndrome	32
1201	c	SLV028	Silver-Russell Syndrome 3	32
1202		EPD072	Epidermolysis Bullosa Dystrophica, Pretibial	32
1203	c	CRT067	Cortical Dysplasia, Complex, with Other Brain Malformations 2	32
1204		CYS021	Cystic Adenomatoid Malformation of Lung	32
1205	c	GLC083	Glaucoma 3, Primary Infantile, B	32
1206	c	FRS015	Fraser Syndrome 3	32
1207		AMN014	Aminopterin Syndrome Sine Aminopterin	32
1208		MTC100	Metacarpal 4-5 Fusion	31
1209	c	MCR270	Microcephaly 14, Primary, Autosomal Recessive	31
1210		EPP022	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	31
1211		ORF053	Orofacial Clefting Syndrome	31
1212		DST008	Diastematomyelia	31
1213		CYS041	Cystic Angiomatosis of Bone, Diffuse	31
1214		CDL005	Caudal Duplication Anomaly	31
1215	c	OST169	Osteogenesis Imperfecta, Type Xviii	31
1216		ART165	Arthrogryposis Multiplex Congenita 3, Myogenic Type	31
1217		FMR018	Femoral-Facial Syndrome	31
1218		GLB024	Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor	31
1219	c	RNL125	Renal Tubular Acidosis, Distal, 1	31
1220		NRD028	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	31
1221		ERL027	Early-Onset Non-Syndromic Cataract	31
1222		MCR354	Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures	31
1223		STP011	Stapes Ankylosis with Broad Thumbs and Toes	31
1224	c	ORF036	Orofaciodigital Syndrome Xiv	30
1225	c	OST138	Osteogenesis Imperfecta, Type Xvii	30
1226	c	USH043	Usher Syndrome, Type Ih	30
1227	P	HYP714	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	30
1228		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	30
1229	c	ORF048	Orofacial Cleft 1	30
1230	c	CLR134	Ciliary Dyskinesia, Primary, 3	30
1231	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	30
1232		ATY016	Atypical Werner Syndrome	29
1233		CHR524	Chromosome 16p13.3 Duplication Syndrome	29
1234	c	FNC062	Fanconi Anemia, Complementation Group S	29
1235		ACR017	Acrofacial Dysostosis	29
1236	P	MTR051	Maternal Uniparental Disomy of Chromosome 1	29
1237		NDL022	Nodular Neuronal Heterotopia	29
1238	c	PRX046	Peroxisome Biogenesis Disorder 7a	29
1239	c	HYP698	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2	29
1240		HYP364	Hyperostosis Frontalis Interna	29
1241	c	CPL015	Capillary Malformation-Arteriovenous Malformation 2	29
1242		ISL061	Isolated Brachycephaly	29
1243	P	CHR200	Chromosome 16 Trisomy	29
1244	c	CWD008	Cowden Syndrome 6	29
1245		CHR229	Chromosome 20p Duplication	29
1246	c	DFN276	Deafness, X-Linked 6	29
1247		PLT007	Palatopharyngeal Incompetence	29
1248	c	SYM022	Symphalangism, Proximal, 1a	29
1249	P	ERL043	Early-Onset Nuclear Cataract	29
1250		12Q002	12q14 Microdeletion Syndrome	29
1251	c	RDL040	Radioulnar Synostosis, Nonsyndromic	29
1252		PRX085	Preaxial Hallucal Polydactyly	28
1253	P	PLM069	Pulmonary Venous Return Anomaly	28
1254		TRC110	Tracheobronchial Stenosis, Congenital	28
1255	c	DFN374	Deafness, Autosomal Recessive 100	28
1256		CHR399	Chromosome 4q21 Deletion Syndrome	28
1257	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	28
1258		FCL047	Facial Clefting, Oblique, 1	28
1259	c	DNC007	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	28
1260	c	RNG022	Ring Chromosome 6	28
1261		CHR379	Chromosome 15q26-Qter Deletion Syndrome	28
1262	c	MCR212	Microphthalmia, Syndromic 12	28
1263		CLF048	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features	28
1264		GRW039	Growth Retardation, Developmental Delay, and Facial Dysmorphism	28
1265		FBL014	Fibular Hemimelia	28
1266		CNG506	Congenital Amyoplasia	27
1267		CHR270	Chromosome 9p Duplication	27
1268		CHR265	Chromosome 8p Duplication	27
1269		FRN022	Frontofacionasal Dysplasia	27
1270		MSM004	Mesomelia-Synostoses Syndrome	27
1271		FCL078	Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs	27
1272	c	PRX052	Peroxisome Biogenesis Disorder 13a	27
1273	c	DFN146	Deafness, X-Linked 3	27
1274		16Q001	16q24.3 Microdeletion Syndrome	27
1275		NNN033	Noonan Syndrome and Noonan-Related Syndrome	27
1276		THR101	Thrombocytopenia, Paris-Trousseau Type	27
1277		WLL012	Williams-Beuren Region Duplication Syndrome	27
1278	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	27
1279	c	BNM015	Bone Mineral Density Quantitative Trait Locus 18	27
1280		NBL001	Nablus Mask-Like Facial Syndrome	27
1281		CHR190	Chromosome 12p Duplication	27
1282		MCR067	Microcoria, Congenital	27
1283	P	PRG139	Progeroid Syndrome	27
1284		YNH001	Yuan-Harel-Lupski Syndrome	27
1285		SHR112	Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies	26
1286		HYP180	Hypertrichosis Lanuginosa Congenita	26
1287		ISL084	Isolated Trigonocephaly	26
1288	P	RNL123	Renal Agenesis, Bilateral	26
1289		BLP041	Blepharochalasis and Double Lip	26
1290		CRL001	Cerulean Cataract	26
1291		UNL005	Unilateral Polymicrogyria	26
1292		CHR248	Chromosome 4p Duplication	26
1293	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	26
1294		SPS207	Spastic Paraplegia and Psychomotor Retardation with or Without Seizures	26
1295		UNV002	Univentricular Heart	26
1296		TTR027	Tetrasomy 15q26	26
1297	c	CLC056	Cole-Carpenter Syndrome 1	26
1298		HRY005	Hairy Elbows	26
1299	c	RNG016	Ring Chromosome 20	26
1300	c	CHR227	Chromosome 20 Trisomy	26
1301	c	MSC118	Muscular Dystrophy-Dystroglycanopathy , Type C, 12	26
1302		SNT004	Sinoatrial Node Dysfunction and Deafness	26
1303		OCC011	Occipital Encephalocele	26
1304		NNG001	Non-Gestational Choriocarcinoma	26
1305	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	26
1306	c	RBN023	Robinow Syndrome, Autosomal Recessive 2	26
1307	c	CWD004	Cowden Syndrome 5	26
1308		PNL023	Penile Agenesis	26
1309		CHR266	Chromosome 8p23.1 Deletion	26
1310		CRT028	Cor Triatriatum	25
1311	c	DYR001	Dyrk1a-Related Intellectual Disability Syndrome	25
1312	c	CHR565	Chromosomal Deletion Syndrome	25
1313		ART030	Aortic Arch Interruption	25
1314	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	25
1315		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
1316	c	PRR022	Perrault Syndrome 2	25
1317		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	25
1318		HGH023	High Bone Mass Osteogenesis Imperfecta	25
1319		CLN022	Colonic Atresia	25
1320	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	25
1321		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	25
1322		HRD037	Hardikar Syndrome	25
1323		CRN272	Craniometadiaphyseal Dysplasia	25
1324	c	MRG012	Meier-Gorlin Syndrome 5	25
1325	c	KLF002	Kleefstra Syndrome Due to a Point Mutation	25
1326		URC005	Urachal Cyst	25
1327		PNS015	Penoscrotal Transposition	25
1328		KPS005	Kaposiform Lymphangiomatosis	25
1329	c	FCL046	Focal Facial Dermal Dysplasia 4	25
1330	c	DFN030	Deafness, Autosomal Recessive 55	25
1331	c	CWD009	Cowden Syndrome 7	24
1332	c	PRX056	Peroxisome Biogenesis Disorder 11b	24
1333		ART164	Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect	24
1334	c	CRT068	Cortical Dysplasia, Complex, with Other Brain Malformations 3	24
1335	c	ORF023	Orofacial Cleft 4	24
1336		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	24
1337		RFM002	Roifman-Chitayat Syndrome	24
1338		NNG002	Non-Gestational Ovarian Choriocarcinoma	24
1339	P	VTM003	Vitamin Metabolic Disorder	24
1340		DPL009	Duplication of the Pituitary Gland	24
1341		DGR006	Digeorge Syndrome/velocardiofacial Syndrome Complex 2	24
1342	c	ORF028	Orofacial Cleft 10	24
1343	c	CFF013	Coffin-Siris Syndrome 8	24
1344		THV001	Thauvin-Robinet-Faivre Syndrome	24
1345	c	CTR157	Cataract 28	24
1346		HFN001	Hao-Fountain Syndrome	24
1347		ATR019	Atrial Septal Defect Sinus Venosus	24
1348		SCH055	Schilbach-Rott Syndrome	24
1349		PLY116	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	24
1350		VRV001	Ververi-Brady Syndrome	24
1351		CGN001	Cogan-Reese Syndrome	24
1352		ACR101	Acrocraniofacial Dysostosis	24
1353		BCR002	Bicornuate Uterus	24
1354		CHR457	Chromosome 17p13.1 Deletion Syndrome	24
1355		FTL073	Fetal Anticonvulsant Syndrome	23
1356	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	23
1357		ACR039	Acromegaloid Hypertrichosis Syndrome	23
1358	P	PHC014	Phocomelia	23
1359		PRT091	Partial Cryptophthalmia	23
1360		NVR001	Nievergelt Syndrome	23
1361	c	THR096	Three M Syndrome 3	23
1362		CMP097	Complex Chromosomal Rearrangement	23
1363		FCC002	Faciocardiorenal Syndrome	23
1364		SPN445	Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	23
1365		ACL002	Acalvaria	23
1366		PRG122	Prognathism, Mandibular	23
1367	c	DMN028	Diamond-Blackfan Anemia 12	23
1368		HRT018	Heart-Hand Syndrome, Slovenian Type	23
1369	c	MCR217	Microphthalmia, Syndromic 11	23
1370	c	CNT117	Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b	23
1371		PRT131	Partial Trisomy Distal 4q	23
1372		INT312	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies	23
1373		BLP009	Blepharonasofacial Malformation Syndrome	23
1374		OST117	Osteomesopyknosis	23
1375		DFN313	Deafness-Hypogonadism Syndrome	23
1376		NRF010	Neurofaciodigitorenal Syndrome	23
1377		FCL067	Focal Facial Dermal Dysplasia 1, Brauer Type	23
1378	c	LKD022	Leukodystrophy, Hypomyelinating, 13	22
1379		PRP090	Peripheral Dysostosis	22
1380	c	OMP009	Omphalocele, Autosomal	22
1381		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	22
1382	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	22
1383	c	LYM147	Lymphatic Malformation 3	22
1384	c	PSD121	Pseudo-Torch Syndrome 3	22
1385		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	22
1386		CHR610	Chromosome 10q22.3-Q23.2 Deletion Syndrome	22
1387	c	SYN088	Synpolydactyly 2	22
1388		CNG357	Congenital Symblepharon	22
1389		TTR019	Tetrasomy 5p	22
1390		2Q3005	2q31.1 Microdeletion Syndrome	22
1391	c	ATR064	Atrioventricular Septal Defect 3	22
1392		BRN123	Branchial Arch Syndrome, X-Linked	22
1393	c	HLP022	Holoprosencephaly 8	22
1394	c	CTR169	Cataract 29	22
1395		SPL057	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	22
1396	c	HYP517	Hypoplastic Left Heart Syndrome 2	22
1397	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	22
1398		TTR021	Tetrasomy 21	22
1399	c	ANX011	Anauxetic Dysplasia 3	22
1400		CLB011	Coloboma of Macula with Type B Brachydactyly	22
1401		CHR241	Chromosome 2q24 Microdeletion Syndrome	22
1402	c	ATS409	Autosomal Recessive Nonsyndromic Deafness 32	22
1403		6QT002	6q Terminal Deletion Syndrome	22
1404		8PN001	8p Inverted Duplication/deletion Syndrome	22
1405	c	MCR244	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2	21
1406	c	PTN013	Patent Ductus Arteriosus 2	21
1407		CRB211	Cerebral Cortical Dysplasia	21
1408	P	ART034	Aortopulmonary Window	21
1409		CHR483	Chromosome 3q13.31 Deletion Syndrome	21
1410	c	JVN025	Juvenile Primary Osteoporosis	21
1411		PCM001	Pacman Dysplasia	21
1412		NTH002	Nathalie Syndrome	21
1413		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	21
1414		JNT001	Joint Laxity, Familial	21
1415		ERL041	Early-Onset Zonular Cataract	21
1416	c	AML059	Amelogenesis Imperfecta, Type Ij	21
1417	c	CRN216	Craniosynostosis 5	21
1418		FTL018	Fetal Indomethacin Syndrome	21
1419		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	21
1420	P	DNC006	Diencephalic-Mesencephalic Junction Dysplasia	20
1421		PHK008	Phakomatosis Cesioflammea	20
1422		THY106	Thyroglossal Duct Cyst, Familial	20
1423	c	JBR038	Joubert Syndrome 27	20
1424	c	DFN367	Deafness, Autosomal Recessive 110	20
1425		DRM042	Dermatoosteolysis, Kirghizian Type	20
1426	c	CWD005	Cowden Syndrome 4	20
1427		ACR107	Acrofacial Dysostosis, Palagonia Type	20
1428	c	ORT012	Orthostatic Hypotension 2	20
1429		FCL066	Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type	20
1430		CLR127	Ciliary Dyskinesia, Primary, 36, X-Linked	20
1431		CRT061	Cor Triatriatum Dexter	20
1432	P	BFD001	Bifid Nose	20
1433		UNC015	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly	20
1434	c	MYS080	Myasthenic Syndrome, Congenital, 23, Presynaptic	20
1435	c	ORF039	Orofaciodigital Syndrome Vii	20
1436		CHN040	Choanal Atresia and Lymphedema	20
1437	c	LKD029	Leukodystrophy, Hypomyelinating, 16	20
1438	c	GLC089	Glaucoma 3, Primary Congenital, E	20
1439	P	RBN007	Rubinstein Taybi Like Syndrome	20
1440		LYM123	Lymphedema-Hypoparathyroidism Syndrome	20
1441		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	20
1442		IST006	Isotretinoin Syndrome	20
1443		DST044	Distal Trisomy 14q	20
1444		DST059	Distal Trisomy 17q	20
1445		19P001	19p13.12 Microdeletion Syndrome	19
1446	c	RNG012	Ring Chromosome 17	19
1447		CHR612	Chromosome 15q14 Deletion Syndrome	19
1448	c	ORF050	Orofacial Cleft 2	19
1449		CNT104	Contractures, Congenital, Torticollis, and Malignant Hyperthermia	19
1450	c	BRN138	Branchiootorenal Spectrum Disorder	19
1451		ULN005	Ulna and Fibula, Hypoplasia of	19
1452		MZB001	Mazabraud Syndrome	19
1453		QDR002	Quadricuspid Aortic Valve	19
1454	c	JBR048	Joubert Syndrome 36	19
1455		TRC114	Trichodental Dysplasia	19
1456	c	ANG059	Angelman Syndrome Due to Imprinting Defect in 15q11-Q13	19
1457	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	19
1458		PSD103	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies	19
1459		HYD021	Hydrocephalus Obesity Hypogonadism	19
1460		UNL014	Unilateral Multicystic Dysplastic Kidney	19
1461		HLP020	Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence	19
1462	c	DFN333	Deafness, Autosomal Dominant 73	19
1463		ISL154	Isolated Exencephaly	19
1464	c	MCR372	Microcephaly 25, Primary, Autosomal Recessive	19
1465	c	PRG093	Pregnancy Loss, Recurrent 3	19
1466		HMF007	Hemifacial Hyperplasia with Strabismus	19
1467	c	ECT114	Ectodermal Dysplasia 10b	18
1468		BLT023	Bilateral Acute Depigmentation of the Iris	18
1469		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	18
1470		PYK001	Pyknoachondrogenesis	18
1471		CRV063	Cervical Spina Bifida Aperta	18
1472		PLD002	Pilodental Dysplasia with Refractive Errors	18
1473	c	INH022	Inherited Ichthyosis	18
1474		21Q001	21q22.11q22.12 Microdeletion Syndrome	18
1475		MCR317	Macrophthalmia, Colobomatous, with Microcornea	18
1476		SBR011	Subaortic Stenosis--Short Stature Syndrome	18
1477		VNT031	Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence	18
1478		ECT069	Ectodermal Dysplasia 8, Hair/tooth/nail Type	18
1479		TRN017	Transient Neonatal Neutropenia	18
1480	c	DFN382	Deafness, Autosomal Dominant 76	18
1481	P	HRD043	Hereditary Congenital Facial Paresis	18
1482		MSC019	Mosaic Trisomy 7	18
1483		STT008	Steatocystoma Multiplex with Natal Teeth	18
1484		BLP042	Blepharoptosis, Myopia, and Ectopia Lentis	18
1485		MCR303	Macrosomia with Microphthalmia, Lethal	18
1486		CNG347	Congenital Tricuspid Stenosis	18
1487		LMB057	Lumbosacral Spina Bifida Aperta	18
1488		PLY133	Polysyndactyly with Cardiac Malformation	18
1489	c	CRN068	Corneal Endothelial Dystrophy Type 2	18
1490	c	HYD068	Hydatidiform Mole, Recurrent, 4	17
1491		5Q3001	5q35 Microduplication Syndrome	17
1492		SLV018	Silver-Russell Syndrome Due to 11p15 Microduplication	17
1493		16P003	16p13.11 Microdeletion Syndrome	17
1494		TBL027	Tubulinopathy-Associated Dysgyria	17
1495	c	OVR118	Ovarian Dysgenesis 6	17
1496		CNG284	Congenital Pseudoarthrosis of the Tibia	17
1497		DBL010	Double-Orifice Mitral Valve	17
1498		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	17
1499		AMN013	Aminopterin/methotrexate Embryofetopathy	17
1500		ENC043	Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration	17
1501		THR084	Thoracolumbosacral Spina Bifida Cystica	17
1502		UPP008	Upper Thoracic Spina Bifida Aperta	17
1503	c	DFN385	Deafness, Autosomal Dominant 78	17
1504		MTH070	Methimazole Antenatal Exposure	17
1505		THR033	Thoracomelic Dysplasia	17
1506		TRG007	Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet	17
1507		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	17
1508	c	MTR063	Maternal Uniparental Disomy of Chromosome 2	17
1509		LSS034	Lissencephaly Type Iii and Bone Dysplasia	17
1510		1QD001	1q Duplications	16
1511		MSC079	Mosaic Trisomy 1	16
1512		BKS002	Book Syndrome	16
1513		RDL030	Radial-Renal Syndrome	16
1514	c	PGT006	Paget Disease of Bone 4	16
1515	c	ANG052	Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15	16
1516		UMB001	Umbilical Cord Ulceration and Intestinal Atresia	16
1517		HRS037	Hirschsprung Disease with Type D Brachydactyly	16
1518		HND012	Handigodu Joint Disease	16
1519		49X005	49, Xxxyy Syndrome	16
1520	c	JVN036	Juvenile Sialidosis Type 2	16
1521		DSL002	Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism	16
1522	c	RNG011	Ring Chromosome 16	16
1523		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	16
1524		DDL001	Didelphys Uterus	16
1525		ESS005	Essential Iris Atrophy	16
1526		ART091	Aorto-Ventricular Tunnel	16
1527		CLB008	Coloboma of Eye Lens	16
1528		MRF018	Marfanoid Habitus with Microcephaly and Glomerulonephritis	16
1529		DYS049	Dysplastic Cortical Hyperostosis	16
1530	c	CHR180	Chromosome 10, Uniparental Disomy	16
1531		HYP727	Hypoglossia with Situs Inversus	16
1532	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	16
1533		CMM018	Common Mesentery	16
1534	c	ATS454	Autosomal Trisomy	16
1535		PCT002	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails	16
1536		ALB022	Albinism-Microcephaly-Digital Anomalies Syndrome	16
1537		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	16
1538		8P1001	8p11.2 Deletion Syndrome	15
1539		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	15
1540	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	15
1541		SPT015	Septate Vagina	15
1542		VLF001	Velofacioskeletal Syndrome	15
1543		8Q1001	8q12 Microduplication Syndrome	15
1544		XP2001	Xp22.3 Microdeletion Syndrome	15
1545		MCR242	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	15
1546		ECT091	Ectodermal Dysplasia with Natal Teeth, Turnpenny Type	15
1547		CRY029	Cryptomicrotia-Brachydactyly Syndrome	15
1548	c	RNG031	Ring Chromosome Y Syndrome	15
1549		PRM334	Primary Bone Dysplasia with Increased Bone Density	15
1550		DST038	Distal Monosomy 7q36	15
1551		TRP023	Triphalangeal Thumbs and Dislocation of Patella	15
1552		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	15
1553	c	OLV005	Olivopontocerebellar Atrophy V	15
1554		20P001	20p12.3 Microdeletion Syndrome	15
1555		DST082	Distal Trisomy 10q	15
1556	c	UNP011	Uniparental Disomy of Chromosome 14	15
1557		DST035	Distal Trisomy 18q	15
1558		CRD014	Cardiac Diverticulum	15
1559		OVR110	Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	15
1560	c	ISC010	Isochromosome Yp	15
1561		EXT058	Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly	15
1562		CMP079	Complete Septate Uterus	15
1563		ISL118	Isolated Tracheoesophageal Fistula	15
1564	c	SYN077	Syndromic X-Linked Intellectual Disability 12	15
1565		LNG102	Long-Thumb Brachydactyly Syndrome	15
1566	c	GLL043	Galloway-Mowat Syndrome 2	15
1567	c	BLN020	Blount Disease, Infantile	15
1568		ORL024	Oral and Digital Anomalies with Ichthyosis	15
1569		BRN122	Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	14
1570	c	UNP012	Uniparental Disomy of Chromosome 7	14
1571		BWN005	Bowing of Long Bones Congenital	14
1572		ADC008	Adactylia, Unilateral	14
1573		SLV016	Silver-Russell Syndrome Due to 7p11.2p13 Microduplication	14
1574		BLT020	Bilateral Multicystic Dysplastic Kidney	14
1575		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	14
1576		CNG518	Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	14
1577	c	HYP545	Hypospadias 3, Autosomal	14
1578		19P003	19p13.3 Microduplication Syndrome	14
1579		ESP040	Esophageal Duplication Cyst	14
1580		DST055	Distal 22q11.2 Microduplication Syndrome	14
1581		FRN047	Frontonasal Dysplasia with Alar Clefts	14
1582		MNS013	Monosomy 13q34	14
1583	c	MTR060	Maternal Uniparental Disomy of Chromosome 9	14
1584		ANR045	Aneurysm of Interventricular Septum	14
1585		PRB002	Proboscis Lateralis	14
1586		MDL016	Midline Cervical Cleft	14
1587	c	CLC009	Clcn7-Related Osteopetrosis	14
1588		BNK001	Banki Syndrome	14
1589		TRN046	Transverse Vaginal Septum	14
1590		PHL009	Phalangeal Microgeodic Syndrome	14
1591		SCL050	Scoliosis, Arachnodactyly, and Blindness	14
1592		RNL109	Renal Hypoplasia, Bilateral	14
1593		6P2001	6p22 Microdeletion Syndrome	14
1594		PRM319	Primary Bone Dysplasia	14
1595	c	DFN387	Deafness, Autosomal Recessive 116	14
1596		9Q2003	9q21.13 Microdeletion Syndrome	14
1597		APH013	Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	14
1598	c	SCN046	Secondary Short Bowel Syndrome	14
1599		10Q002	10q22.3q23.3 Microduplication Syndrome	13
1600	c	MCR282	Microcephaly and Chorioretinopathy 1	13
1601		CCN010	Cocaine Embryofetopathy	13
1602		PTR014	Paternal 20q13.2q13.3 Microdeletion Syndrome	13
1603		HYP671	Hypomyelination Neuropathy-Arthrogryposis Syndrome	13
1604		MSC078	Mosaic Trisomy 17	13
1605		HRN021	Hernández-Aguirre Negrete Syndrome	13
1606		CMP022	Camptodactyly Taurinuria	13
1607		CNT114	Central Nervous System Malformation	13
1608		DFN310	Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy	13
1609		PHN013	Phenobarbital Antenatal Exposure	13
1610		PRT206	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9	13
1611		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	13
1612		DVR007	Diverticulosis of Bowel, Hernia, and Retinal Detachment	13
1613		SYN112	Syndromic Microphthalmia-Anophthalmia-Coloboma	13
1614		DST052	Distal 7q11.23 Microduplication Syndrome	13
1615	c	UNP003	Uniparental Disomy of Chromosome 11	13
1616		RCT033	Rectal Duplication	13
1617		DST079	Distal Trisomy 5q	13
1618		PRT237	Partial Deletion of the Long Arm of Chromosome 16	13
1619		ERL036	Early-Onset Posterior Subcapsular Cataract	13
1620	c	CMP100	Campomelic Dysplasia and Related Disorders	12
1621		ISL111	Isolated Arrhinia	12
1622	c	TRS033	Trisomy 18-Like Syndrome	12
1623	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	12
1624		ANM075	Anomalous Aortic Origin of Coronary Artery	12
1625		PST104	Postaxial Oligodactyly, Tetramelic	12
1626		CNT102	Contractures-Developmental Delay-Pierre Robin Syndrome	12
1627		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	12
1628		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	12
1629		NND005	Non-Distal Trisomy 13q	12
1630		CNG235	Congenital Microgastria	12
1631		APR008	Aprosencephaly and Cerebellar Dysgenesis	12
1632		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	12
1633		CNG587	Congenital Limb Malformation	12
1634		RTN189	Retinal Capillary Malformation	12
1635		ANR041	Aniridia-Intellectual Disability Syndrome	12
1636		ANN018	Anonychia, Total, with Microcephaly	12
1637		CNG335	Congenital Ectropion Uveae	12
1638		MSC090	Mosaic Trisomy 3	12
1639		DST071	Distal Monosomy 19p13.3	12
1640	c	ADL101	Adult-Onset Steinert Myotonic Dystrophy	12
1641		NND004	Non-Distal Monosomy 10q	12
1642		FBL015	Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	12
1643		LWR017	Lower Limb Malformation-Hypospadias Syndrome	12
1644		PRT180	Partial Deletion of the Long Arm of Chromosome 7	12
1645		ART097	Aorto-Left Ventricular Tunnel	12
1646		XLN204	X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	12
1647	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	11
1648		LBR027	Laubry-Pezzi Syndrome	11
1649	c	RRC022	Rare Chromosomal Anomaly	11
1650	c	BFD005	Bifid Nose, Autosomal Recessive	11
1651		CNG490	Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome	11
1652		MGC005	Megacystis-Megaureter Syndrome	11
1653		CNG282	Congenital Knee Dislocation	11
1654		FRN052	Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	11
1655		XLN157	X-Linked Intellectual Disability, Porteous Type	11
1656		DYS044	Dysmorphism Cleft Palate Loose Skin	11
1657	P	RRN017	Rare Intellectual Disability	11
1658		ACH028	Acheiria	11
1659		PRT200	Partial Duplication of the Long Arm of Chromosome 2	11
1660	c	ZYG007	Zygodactyly Type 3	11
1661	c	ORF006	Orofaciodigital Syndrome 13	11
1662		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	11
1663		PRT178	Partial Deletion of the Long Arm of Chromosome 5	11
1664		ARC022	Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome	11
1665		PRT215	Partial Duplication of the Short Arm of Chromosome 2	10
1666	c	ATS448	Autosomal Recessive Brachyolmia	10
1667	c	CNG257	Congenital Pulmonary Sequestration	10
1668		MRN008	Marin-Amat Syndrome	10
1669	c	CHR161	Chiari Malformation Type 3	10
1670		LFT022	Left Sided Atrial Isomerism	10
1671	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	10
1672	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	10
1673		PRM246	Primary Tethered Cord Syndrome	10
1674		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	10
1675		PRT204	Partial Duplication of the Long Arm of Chromosome 4	10
1676		FCL058	Facial Arteriovenous Malformation	10
1677		PRM302	Paramedian Facial Cleft	10
1678	c	BFD004	Bifid Nose, Autosomal Dominant	10
1679		ONY006	Onychodystrophy-Anonychia	10
1680		RNL107	Renal Dysplasia, Bilateral	10
1681		DST089	Distal Trisomy 3p	10
1682		XLN147	X-Linked Intellectual Disability, Stoll Type	10
1683		PRT164	Partial Deletion of the Short Arm of Chromosome 8	10
1684	c	CNG251	Congenital Pericardium Anomaly	10
1685	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	9
1686	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	9
1687	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	9
1688		4P1001	4p16.3 Microduplication Syndrome	9
1689		DST081	Distal Trisomy 11q	9
1690		HYP584	Hypotrichosis-Intellectual Disability, Lopes Type	9
1691	c	TRN078	Transient Antenatal Bartter Syndrome	9
1692		PRT160	Partial Deletion of the Short Arm of Chromosome 4	9
1693		PRT187	Partial Duplication of Chromosome X	9
1694	c	WDR002	Wdr26-Related Intellectual Disability	9
1695		PRT106	Partial Duplication of the Short Arm of Chromosome X	9
1696	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	9
1697		BLR023	Biliary Atresia with Splenic Malformation Syndrome	9
1698	c	CNG406	Congenital Pulmonary Airway Malformation Type 0	9
1699		RNL106	Renal Dysplasia, Unilateral	9
1700	c	MTR064	Maternal Uniparental Disomy of Chromosome 22	9
1701		SPN341	Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	9
1702	c	UNP009	Uniparental Disomy of Chromosome 20	9
1703		DST076	Distal Trisomy 13q	9
1704		PRC042	Parachute Tricuspid Valve	9
1705		INV017	Inverse Marcus-Gunn Phenomenon	9
1706	P	PRT183	Partial Monosomy of the Long Arm of Chromosome 10	9
1707		MCR301	Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	9
1708	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	9
1709		CNG272	Congenital Achiasma	9
1710		ANG057	Angioosteohypotrophic Syndrome	9
1711	c	SCN085	Secondary Ectropion	9
1712		CNG283	Congenital Pseudoarthrosis of the Femur	9
1713		OMP003	Omphalomesenteric Cyst	8
1714		PRT228	Partial Duplication of Chromosome 1	8
1715		HMR042	Humero-Ulnar Synostosis	8
1716	c	ISC013	Isochromosomy Yq	8
1717	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	8
1718	c	BNM020	Bone Mineral Density Quantitative Trait Locus 6	8
1719		PRT197	Partial Duplication of the Long Arm of Chromosome 15	8
1720		PRT203	Partial Duplication of the Long Arm of Chromosome 7	8
1721		DST057	Distal Trisomy 19q	8
1722		CNG327	Congenital Epstein-Barr Virus Infection	8
1723	c	MTR065	Maternal Uniparental Disomy of Chromosome 21	8
1724	c	GLC032	Glaucoma, Hereditary	8
1725		PRT231	Partial Duplication of Chromosome 4	8
1726		MDL028	Midline Cerebral Malformation	8
1727		RNL108	Renal Hypoplasia, Unilateral	8
1728	c	RRR004	Rare Arteriovenous Malformation	8
1729		PRT174	Partial Deletion of the Long Arm of Chromosome 1	8
1730		PRT181	Partial Deletion of the Long Arm of Chromosome 8	8
1731		TRS020	Tarsal Kink Syndrome	8
1732		PRT171	Partial Deletion of the Short Arm of Chromosome 18	8
1733	c	DXT005	Dextro-Looped Transposition of the Great Arteries 3	8
1734		MCR294	Macrocephaly-Short Stature-Paraplegia Syndrome	8
1735		TRC108	Trichodysplasia-Amelogenesis Imperfecta Syndrome	8
1736		RRV006	Rare Venous Malformation	8
1737		ESP045	Esophageal Malformation	8
1738		PRT152	Partial Deletion of Chromosome 10	8
1739		PRT177	Partial Deletion of the Long Arm of Chromosome 4	8
1740		PRT238	Partial Deletion of the Long Arm of Chromosome 17	8
1741		PRT241	Partial Deletion of the Long Arm of Chromosome 20	8
1742		CNG318	Congenital Genu Recurvatum	8
1743		CRN208	Coronary Sinus Atresia	8
1744		CNG517	Congenital Agenesis of the Scrotum	7
1745	P	PRT173	Partial Monosomy of the Short Arm of Chromosome 20	7
1746	P	PRT196	Partial Trisomy of the Long Arm of Chromosome 16	7
1747		PRT234	Partial Duplication of Chromosome 7	7
1748		CLS027	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form	7
1749		DST084	Distal Trisomy 8q	7
1750		PLY086	Polyrrhinia	7
1751		PRT235	Partial Deletion of the Long Arm of Chromosome 14	7
1752		URG006	Urogenital Tract Malformation	7
1753		PRT146	Partial Deletion of Chromosome 8	7
1754		PRT149	Partial Deletion of Chromosome 7	7
1755		PRT217	Partial Duplication of the Short Arm of Chromosome 4	7
1756		PRM335	Primary Bone Dysplasia with Multiple Joint Dislocations	7
1757	P	PRM337	Primary Osteolysis	7
1758	c	PTR023	Paternal Uniparental Disomy of Chromosome 13	7
1759	c	PRT170	Partial Monosomy of the Short Arm of Chromosome 17	7
1760		PRT244	Partial Deletion of the Short Arm of Chromosome 12	7
1761		FTL049	Fetal Carbamazepine Syndrome	7
1762		ISL064	Isolated Ankyloblepharon Filiforme Adnatum	7
1763	P	NNS070	Non-Syndromic Cerebral Malformation	6
1764	P	TSS001	Tessier Number 5 Facial Cleft	6
1765		PRT143	Partial Deletion of Chromosome 5	6
1766		PRT189	Partial Duplication of the Long Arm of Chromosome 19	6
1767		PRN015	Perinatal Intestinal Perforation	6
1768	c	ATS489	Autosomal Dominant Nonsyndromic Deafness 76	6
1769		OTM002	Otomandibular Dysplasia	6
1770		MLT170	Multiple Congenital Anomalies/dysmorphic Syndrome	6
1771		12Q001	12q15q21.1 Microdeletion Syndrome	6
1772		DZX006	Diazoxide-Resistant Focal Hyperinsulinism	6
1773		DST074	Distal Trisomy 20q	6
1774	P	RRC010	Rare Capillary Malformation	6
1775		IDP088	Idiopathic Isolated Micropenis	6
1776		CNG290	Congenital Absence of Both Lower Leg and Foot	6
1777		ECT057	Ectasia of the Right Atrial Appendage	6
1778	c	NNS047	Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration	6
1779		HYP850	Hypoglossia/aglossia	6
1780		ATY043	Atypical Norrie Disease Due to Xp11.3 Microdeletion	6
1781		PRT191	Partial Duplication of the Long Arm of Chromosome 17	6
1782		RNN007	Reunion Island Larsen-Like Syndrome	6
1783		TBL020	Tubular Duplication of the Esophagus	6
1784		CMP105	Complete Atrioventricular Septal Defect Without Ventricular Hypoplasia	6
1785		NSN002	Nose and Cavum Anomaly	6
1786	c	CHR179	Chromosome 1, Uniparental Disomy 1q12 Q21	5
1787		PRT139	Partial Bilateral Aplasia of the Mullerian Ducts	5
1788		LWR011	Lower Lip Fistula	5
1789		PRT147	Partial Deletion of Chromosome 9	5
1790		PRT201	Partial Duplication of the Long Arm of Chromosome 3	5
1791		PRT209	Partial Duplication of the Short Arm of Chromosome 17	5
1792		PRT211	Partial Duplication of the Short Arm of Chromosome 11	5
1793		ISL153	Isolated Congenital Aglossia	5
1794		GST110	Gastroduodenal Malformation	5
1795		CNG345	Congenital Anomaly of Superior Vena Cava	5
1796		DST066	Distal Monosomy 20q	5
1797		DST077	Distal Trisomy 22q	5
1798		LCR016	Lacrimal Drainage System Anomaly	5
1799	c	PRX100	Proximal Symphalangism 2	5
1800		LTH051	Lethal Brain and Heart Developmental Defects	5
1801		PRT212	Partial Duplication of the Short Arm of Chromosome 16	5
1802		PRM320	Primary Bone Dysplasia with Micromelia	5
1803		3Q2005	3q26q27 Microdeletion Syndrome	5
1804		PRT245	Partial Deletion of Chromosome 12	5
1805		RRC028	Rare Congenital Non-Syndromic Heart Malformation	5
1806		DRG019	Drug-Related Renal Tubular Dysgenesis	5
1807		PRM332	Primary Bone Dysplasia with Defective Bone Mineralization	5
1808		PRM333	Primary Bone Dysplasia with Decreased Bone Density	5
1809		PRM336	Primary Bone Dysplasia with Disorganized Development of Skeletal Components	5
1810		SLN010	Slender Bone Dysplasia	5
1811	c	CNG620	Congenital-Onset Steinert Myotonic Dystrophy	5
1812		CNG601	Congenital Tricuspid Malformation	5
1813	c	ATS402	Autosomal Dominant Nonsyndromic Deafness 34	5
1814		CNG438	Congenital Disorder of Glycosylation with Developmental Anomaly	5
1815		UTR055	Uterine Cervical Aplasia and Agenesis	5
1816		PRR038	Pierre Robin Syndrome Associated with Bone Disease	5
1817	c	PRT194	Partial Trisomy of the Long Arm of Chromosome 9	5
1818		PRT227	Partial Deletion of the Long Arm of Chromosome 22	5
1819		CNG571	Congenital Disorder of Glycosylation-Related Bone Disorder	5
1820		ISL117	Isolated Congenital Radial Head Dislocation	5
1821		RSP024	Respiratory or Mediastinal Malformation	5
1822		DST070	Distal Monosomy 4q	5
1823		DBL013	Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect	5
1824		SYN144	Syndromic Outer Canthal Malposition	5
1825		CRN313	Corneodysgenesis	5
1826		NLX006	Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency	5
1827		SYN169	Syndrome with a Central Nervous System Malformation As a Major Feature	5
1828		NNC007	Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	5
1829	c	LRP007	Lrp5-Related Primary Osteoporosis	5
1830		46X075	46,xx Disorder of Sex Development Induced by Fetal Androgens Excess	5
1831	c	LSS018	Lissencephaly with Cerebellar Hypoplasia Type F	5
1832		NNS046	Non-Syndromic Urogenital Tract Malformation	4
1833		LWS004	Low Isolated Anorectal Malformation	4
1834		MDN007	Median Cleft Lip/mandibule	4
1835		PRT142	Partial Deletion of Chromosome 4	4
1836		PRT157	Partial Deletion of Chromosome 19	4
1837		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	4
1838		CNG577	Congenital Deformities of Limbs	4
1839		CNT081	Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome	4
1840		ARX004	Arx-Related Encephalopathy-Brain Malformation Spectrum	4
1841		RRC020	Rare Congenital Anomaly of Ventricular Septum	4
1842		NND007	Non-Distal Monosomy 12q	4
1843		NND009	Non-Distal Trisomy 9q	4
1844		SYN141	Syndromic Renal or Urinary Tract Malformation	4
1845		NNT057	Neonatal Osteosclerotic Dysplasia	4
1846		SBR010	Subaortic Course of Innominate Vein	4
1847		PLM178	Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome	4
1848		CNG598	Congenital Malformation of the Eye with Glaucoma As a Major Feature	4
1849		RRT022	Rare Atrial Defect and Interatrial Communication	4
1850		SYN155	Syndromic Anorectal Malformation	4
1851		MLT174	Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome	4
1852	c	RRD018	Rare Disease with Pierre Robin Syndrome	4
1853	c	RRD045	Rare Disorder with Ectropion	4
1854	c	BLT012	Bilateral Renal Agenesis Dominant Type	4
1855		CRD212	Cardiac Anomalies-Heterotaxy Syndrome	4
1856		PNN004	Pinnae Fistula or Cyst	4
1857	c	PRT188	Partial Trisomy of the Long Arm of Chromosome 20	4
1858		PRT224	Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12	4
1859		ISL035	Isolated Amyelia	4
1860		SMP008	Simple Vascular Malformation	4
1861		SYN118	Syndrome with Limb Reduction Defects	4
1862		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
1863		HMR036	Humero-Ulnar Synostosis, Unilateral	4
1864		PRT247	Partial Duplication of the Short Arm of Chromosome 19	4
1865		ISL126	Isolated Iridoschisis	4
1866		SYN126	Syndromic Microspherophakia	4
1867		UNL009	Unilateral Congenital Megacalycosis	4
1868		DPH030	Diaphragmatic or Abdominal Wall Malformation	4
1869		ABN010	Abnormal Number of Coronary Ostia	4
1870		ISL071	Isolated Congenital Ectropion	4
1871		MCR377	Microblepharon-Ablephara Syndrome	4
1872		LNS009	Lens Size Anomaly	4
1873		ERL060	Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia	4
1874	c	RRD046	Rare Disorder with Entropion	4
1875		HYP506	Hypoplasia of the Mitral Valve Annulus	4
1876		HGH040	High Isolated Anorectal Malformation	4
1877		MDN006	Median Cleft of the Upper Lip and Maxilla	4
1878		ISL107	Isolated Congenital Syngnathia	4
1879		PRT156	Partial Deletion of Chromosome 20	4
1880		MLF006	Malformation of the Neurenteric Canal, Spinal Cord and Column	4
1881		PRT243	Partial Duplication of the Short Arm of Chromosome 1	4
1882		SGM005	Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia	4
1883		CNG576	Congenital Deformities of Fingers	4
1884		SPG003	Spigelian Hernia-Cryptorchidism Syndrome	4
1885		CNG315	Congenital Vertical Talus, Unilateral	4
1886		MCR187	Macrodactyly of Fingers, Bilateral	4
1887		LTH049	Lethal Multiple Congenital Anomalies/dysmorphic Syndrome	4
1888		MYB004	Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	4
1889		CNG493	Congenital Generalized Hypercontractile Muscle Stiffness Syndrome	4
1890	c	PTR021	Paternal Uniparental Disomy of Chromosome 21	4
1891		NNS058	Non-Syndromic Renal or Urinary Tract Malformation	4
1892		SYN156	Syndrome with Limb Malformations As a Major Feature	4
1893		NNS064	Non-Syndromic Central Nervous System Malformation	4
1894		SYN159	Syndromic Diaphragmatic or Abdominal Wall Malformation	4
1895		MLF004	Malformation Syndrome with Odontal and/or Periodontal Component	3
1896		MTR085	Maternal Disease-Related Embryofetopathy	3
1897		TRC124	True Congenital Shoulder Dislocation	3
1898		SYN130	Syndromic Lacrimal System Disorder	3
1899		RRT021	Rare Otorhinolaryngological Malformation	3
1900		CNG341	Congenital Anomaly of the Coronary Sinus	3
1901		STR075	Straddling or Overriding Tricuspid Valve	3
1902		CNG349	Congenital Patent Ductus Arteriosus Aneurysm	3
1903		HRT042	Heart Position Anomaly	3
1904	c	DNS012	Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum	3
1905		PSD120	Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy	3
1906		RRV004	Rare Vaginal Malformation	3
1907		NNS051	Non-Syndromic Urogenital Tract Malformation of Male	3
1908		PRR036	Pierre Robin Syndrome Associated with Collagen Disease	3
1909		PRR037	Pierre Robin Syndrome Associated with a Chromosomal Anomaly	3
1910		PRR039	Pierre Robin Syndrome Associated with Branchial Archs Anomalies	3
1911		RRS007	Rare Syndrome with Cardiac Malformations	3
1912		PRT214	Partial Trisomy/tetrasomy of Chromosome 18	3
1913		PRT221	Partial Trisomy/tetrasomy of Chromosome 9	3
1914		PRT232	Partial Trisomy/tetrasomy of Chromosome 5	3
1915		LPM014	Lipoma Associated with Neurospinal Dysraphism	3
1916		OTH026	Other Syndrome with a Central Nervous System Malformation As a Major Feature	3
1917		CNT113	Central Nervous System Cystic Malformation	3
1918		INF180	Infantile Hemangioma of Rare Localization	3
1919		EPB005	Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome	3
1920		RRC017	Rare Capillary Malformation with Associated Anomalies	3
1921		OVR126	Overgrowth or Tall Stature Syndrome with Skeletal Involvement	3
1922		GNT161	Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy	3
1923		ISL152	Isolated Congenital Hypoglossia	3
1924		DPH029	Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome	3
1925		ATS455	Autosomal Uniparental Disomy	3
1926		SXC006	Sex-Chromosome Structural Anomaly	3
1927	c	CHR691	Chromosome X Structural Anomaly	3
1928		CRN315	Cranial Nerve and Nuclear Aplasia	3
1929		NNS062	Non-Syndromic Limb Malformation	3
1930		SYN161	Syndromic Visceral Malformation	3
1931		RRH012	Rare Head and Neck Malformation	3
1932		TXC022	Toxic or Drug-Related Embryofetopathy	3
1933		RRD038	Rare Disorder with Hirschsprung Disease As a Major Feature	3
1934		PTL012	Patellar Dysostosis	3
1935		NNS068	Non-Syndromic Intestinal Malformation	3
1936		NNS050	Non-Syndromic Urogenital Tract Malformation of Female	2
1937		ORM003	Oromandibular-Limb Anomalies Syndrome	2
1938		PLY186	Polysomy of X Chromosome	2
1939		PRT248	Partial Autosomal Trisomy/tetrasomy	2
1940	P	TST021	Testicular Germ Cell Tumor	61
1941	c	TST046	Testicular Germ Cell Tumor 1	26
1942		UND001	Undifferentiated Embryonal Sarcoma of the Liver	31
1943	P	MDL005	Medulloblastoma	75
1944	P	PTN014	Patent Ductus Arteriosus 1	59
1945	c	NML003	Nemaline Myopathy 2	51
1946	c	NML002	Nemaline Myopathy 1	49
1947	P	NML001	Nemaline Myopathy	48
1948		GRC001	Gracile Syndrome	47
1949	c	NML004	Nemaline Myopathy 3	47
1950	c	ADL023	Adult Medulloblastoma	42
1951		SPR008	Supratentorial Primitive Neuroectodermal Tumor	42
1952	c	NML006	Nemaline Myopathy 5	41
1953	c	NML010	Nemaline Myopathy 7	39
1954	c	NML005	Nemaline Myopathy 4	38
1955	c	SVR040	Severe Congenital Nemaline Myopathy	37
1956	c	INT274	Intermediate Congenital Nemaline Myopathy	36
1957	c	NML025	Nemaline Myopathy 8	36
1958	c	NML021	Nemaline Myopathy 9	33
1959	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	33
1960	c	NML007	Nemaline Myopathy 6	30
1961	c	ADL068	Adult-Onset Nemaline Myopathy	23
1962	c	CNG579	Congenital Nemaline Myopathy	18
1963		CHL048	Childhood Teratocarcinoma of the Testis	7
1964		CHL031	Childhood Vagina Botryoid Rhabdomyosarcoma	7
1965	P	NJM001	Nijmegen Breakage Syndrome	76
1966		BRT054	Brittle Bone Disorder	74
1967		PTZ001	Peutz-Jeghers Syndrome	70
1968	c	MCP001	Mucopolysaccharidosis Iii	69
1969	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	69
1970		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	68
1971	P	CNG001	Congenital Myasthenic Syndrome	68
1972	P	CRN037	Craniosynostosis	68
1973		ART002	Arts Syndrome	66
1974		HLT001	Holt-Oram Syndrome	66
1975	P	NRB001	Neuroblastoma	66
1976		CNC002	Cinca Syndrome	66
1977	P	MLG056	Malignant Hyperthermia	66
1978	P	CMP005	Campomelic Dysplasia	65
1979	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	65
1980	P	ZLL001	Zellweger Syndrome	65
1981		BLM001	Bloom Syndrome	65
1982	P	LYS001	Loeys-Dietz Syndrome	65
1983	P	HRP006	Herpes Simplex	65
1984		NNN026	Noonan Syndrome with Multiple Lentigines	65
1985		FCL009	Focal Dermal Hypoplasia	64
1986		GRG001	Greig Cephalopolysyndactyly Syndrome	64
1987		CRN036	Craniopharyngioma	64
1988	P	PRT008	Proteus Syndrome	63
1989		AND002	Androgen Insensitivity Syndrome	63
1990	P	ECT006	Ectodermal Dysplasia	63
1991		ELL001	Ellis-Van Creveld Syndrome	62
1992	P	BCK002	Beckwith-Wiedemann Syndrome	62
1993	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	61
1994		NRR002	Norrie Disease	61
1995		CNG410	Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly	61
1996		ART141	Arteriovenous Malformations of the Brain	60
1997	c	WLF013	Wolfram Syndrome 1	60
1998	c	CCK008	Cockayne Syndrome a	59
1999		KLP010	Klippel-Trenaunay-Weber Syndrome	59
2000	c	NRB010	Neuroblastoma 1	59
2001		FCL081	Focal Cortical Dysplasia, Type Ii	59
2002	c	CRP023	Carpenter Syndrome 1	59
2003		HYP042	Hypochondroplasia	59
2004		PSD012	Pseudoachondroplasia	59
2005	P	SCL048	Sclerosteosis	58
2006	P	SCK004	Seckel Syndrome	58
2007	P	DXT004	Dextro-Looped Transposition of the Great Arteries	58
2008		PPL048	Papillorenal Syndrome	58
2009	c	ART061	Arthrogryposis, Distal, Type 2a	58
2010		TTL012	Total Anomalous Pulmonary Venous Return 1	58
2011		MCS006	Macs Syndrome	58
2012	P	EHL001	Ehlers-Danlos Syndrome	58
2013	P	ADM011	Adams-Oliver Syndrome	58
2014	c	MYT020	Myotonic Dystrophy 2	57
2015	c	GLC097	Glaucoma 3, Primary Congenital, a	57
2016		VCS001	Vici Syndrome	57
2017		SPR004	Supravalvular Aortic Stenosis	57
2018	P	CLS054	Classic Ehlers-Danlos Syndrome	57
2019		LCR014	Lacrimoauriculodentodigital Syndrome	57
2020		WLF002	Wolf-Hirschhorn Syndrome	57
2021		CLF004	Cleft Lip/palate	57
2022		MNK003	Muenke Syndrome	57
2023	c	MSC109	Mosaic Variegated Aneuploidy Syndrome 1	57
2024	c	RBN021	Rubinstein-Taybi Syndrome 1	57
2025		HST017	Histiocytosis-Lymphadenopathy Plus Syndrome	57
2026		NWB001	Newborn Respiratory Distress Syndrome	56
2027	P	ICH004	Ichthyosis	56
2028	P	FNC044	Fanconi Anemia, Complementation Group C	56
2029	c	FNC029	Fanconi Anemia, Complementation Group I	56
2030	c	OTP007	Otopalatodigital Syndrome, Type Ii	56
2031	c	LSS006	Lissencephaly 2	55
2032	P	TWN003	Townes-Brocks Syndrome	55
2033	c	RBN022	Robinow Syndrome, Autosomal Recessive 1	55
2034		HMF006	Hemifacial Microsomia	55
2035	P	FTL001	Fetal Alcohol Syndrome	55
2036		DFN344	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome	55
2037	P	MRG008	Meier-Gorlin Syndrome 1	55
2038		DNN002	Donnai-Barrow Syndrome	55
2039		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	55
2040		MGC002	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	55
2041		IFP002	Ifap Syndrome 1, with or Without Bresheck Syndrome	55
2042	c	FML347	Familial Adenomatous Polyposis 2	55
2043		ARS001	Aarskog-Scott Syndrome	54
2044	c	SPN101	Spinocerebellar Ataxia 29	54
2045	c	ACH041	Achondrogenesis, Type Ii	54
2046		PSD014	Pseudopseudohypoparathyroidism	54
2047		MBS002	Moebius Syndrome	54
2048	P	KRT028	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	54
2049		MCN007	Meconium Aspiration Syndrome	53
2050	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	53
2051	P	ACH011	Achondrogenesis	53
2052	P	MTR003	Mitral Valve Stenosis	53
2053	P	JNC001	Junctional Epidermolysis Bullosa	53
2054		MLT135	Multiple Sulfatase Deficiency	53
2055		SCH071	Schaaf-Yang Syndrome	53
2056		BRN003	Branchiooculofacial Syndrome	53
2057	c	MYS051	Myasthenic Syndrome, Congenital, 5	53
2058		CTS003	Coats Disease	53
2059		STV003	Stuve-Wiedemann Syndrome	52
2060	P	LNR013	Linear Skin Defects with Multiple Congenital Anomalies 1	52
2061		LYM029	Lymphedema-Distichiasis Syndrome	52
2062	c	LKD019	Leukodystrophy, Hypomyelinating, 6	52
2063		ATH001	Athabaskan Brainstem Dysgenesis Syndrome	52
2064	P	PTS002	Ptosis	52
2065	c	ICH069	Ichthyosis, Congenital, Autosomal Recessive 4b	52
2066		OST032	Osteofibrous Dysplasia	52
2067	c	USH035	Usher Syndrome Type 2	52
2068	P	SLV027	Silver-Russell Syndrome 1	52
2069	P	CHR640	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	51
2070	c	ART119	Arthrogryposis, Distal, Type 5	51
2071		MLC004	Mulchandani-Bhoj-Conlin Syndrome	51
2072	P	PRT042	Parietal Foramina	51
2073	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	51
2074		CNN011	Cenani-Lenz Syndactyly Syndrome	51
2075	P	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	51
2076	P	HYP040	Hypospadias	51
2077		INT276	Interatrial Communication	51
2078		KPS002	Kaposiform Hemangioendothelioma	50
2079		ASP004	Asphyxia Neonatorum	50
2080	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	50
2081		MRS004	Marshall-Smith Syndrome	50
2082	c	ACH042	Achondrogenesis, Type Ib	50
2083		PLM041	Pulmonary Valve Stenosis	50
2084	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	50
2085		CLL036	Culler-Jones Syndrome	49
2086		CRD002	Cri-Du-Chat Syndrome	49
2087		ACR058	Acrofacial Dysostosis 1, Nager Type	49
2088	c	LYS017	Loeys-Dietz Syndrome 4	49
2089		BRT001	Bart-Pumphrey Syndrome	49
2090		JCK001	Jackson-Weiss Syndrome	49
2091	c	OPT050	Opitz Gbbb Syndrome, Type Ii	49
2092		HMM003	Hemimegalencephaly	48
2093	c	LKD010	Leukodystrophy, Hypomyelinating, 2	48
2094		DBW001	Dubowitz Syndrome	48
2095		GLC106	Glucocorticoid Resistance, Generalized	48
2096		HLS003	Helsmoortel-Van Der Aa Syndrome	48
2097		ECT026	Ectopic Pregnancy	48
2098	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	48
2099	c	TRN032	Transient Neonatal Diabetes Mellitus	47
2100		MYP151	Myopathy, Congenital, Bailey-Bloch	47
2101	P	GND004	Gonadal Dysgenesis	47
2102		MLY008	Molybdenum Cofactor Deficiency, Complementation Group a	47
2103	c	DVL029	Developmental and Epileptic Encephalopathy 2	47
2104	c	TBL031	Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	47
2105	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	46
2106	c	MCR245	Microphthalmia, Syndromic 8	46
2107		HRT030	Hartsfield Syndrome	46
2108	c	HYP513	Hypogonadotropic Hypogonadism 1 with or Without Anosmia	46
2109		RPD005	Rapidly Involuting Congenital Hemangioma	46
2110		CRY032	Carey-Fineman-Ziter Syndrome	46
2111	P	HYP776	Hyperparathyroidism, Neonatal Severe	46
2112	P	CRC039	Coarctation of Aorta	46
2113	c	PNT036	Pontocerebellar Hypoplasia, Type 6	46
2114		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	46
2115		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	46
2116		TTT001	Tatton-Brown-Rahman Syndrome	46
2117	P	OCY003	Oocyte Maturation Defect 1	46
2118	P	KRN004	Kernicterus	46
2119	c	FNC028	Fanconi Anemia, Complementation Group L	46
2120		ANK017	Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate	46
2121		PRG071	Progressive Pseudorheumatoid Dysplasia	45
2122		BRN062	Burn-Mckeown Syndrome	45
2123	c	FBR029	Fibrochondrogenesis 1	45
2124	P	MGL013	Megalencephaly	45
2125	c	DFN133	Deafness, Autosomal Recessive 9	45
2126	c	SPN293	Spinocerebellar Ataxia 12	45
2127		JLL001	Jalili Syndrome	45
2128	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	45
2129	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	45
2130	c	ART147	Arthrogryposis, Distal, Type 7	45
2131	c	JBR035	Joubert Syndrome 24	45
2132		BNB002	Bainbridge-Ropers Syndrome	45
2133		MCR037	Macroglossia	44
2134		MRG013	Mirage Syndrome	44
2135		CHN057	Chondrodysplasia, Grebe Type	44
2136		MCR103	Microtia	44
2137	P	MLT072	Multiple Synostoses Syndrome