GestaltGANshare/GMDB_Metadata · Datasets at Hugging Face

image_id int64 1 19.1k	mondo_id stringclasses 528 values	patient_id int64 2 11.3k	gene_names stringclasses 697 values	present_features listlengths 0 64	absent_features stringclasses 142 values	ethnicity_category stringclasses 5 values	ethnicity_sub_category stringclasses 13 values	age_year float64 0 84 ⌀	age_month float64 0 12 ⌀	age_note stringclasses 156 values	gender stringclasses 4 values	train bool 2 classes	OMIM float64 101k 620k	mondo_name stringclasses 529 values	has_hpo bool 2 classes
199	MONDO:0008678	159	null	[ "HP:0000629", "HP:0001328", "HP:0001518", "HP:0004209", "HP:0004322", "HP:0004381", "HP:0006895", "HP:0012775", "HP:0030148" ]	null	European	null	16	0	null	female	true	194,050	Williams syndrome	true
203	MONDO:0008678	163	null	[ "HP:0000286", "HP:0000288", "HP:0000331", "HP:0000463", "HP:0000629", "HP:0004426", "HP:0005272", "HP:0011218" ]	null	African	African Others	null	null	(infant)	female	true	194,050	Williams syndrome	true
204	MONDO:0008678	164	null	[ "HP:0000286", "HP:0000331", "HP:0000414", "HP:0000472", "HP:0000629" ]	null	European	null	null	null	(infant)	male	true	194,050	Williams syndrome	true
207	MONDO:0008678	166	null	[ "HP:0000178", "HP:0000276", "HP:0000331", "HP:0000691" ]	null	Others	Others	null	null	(child)	female	true	194,050	Williams syndrome	true
209	MONDO:0008678	167	null	[ "HP:0000276", "HP:0000288", "HP:0000343", "HP:0000414", "HP:0000463", "HP:0000525", "HP:0012471" ]	null	European	null	null	null	(adolescent)	male	true	194,050	Williams syndrome	true
210	MONDO:0008678	168	null	[ "HP:0000691", "HP:0000767", "HP:0001252", "HP:0001538", "HP:0002212", "HP:0009826" ]	null	Others	Others	null	null	(child)	female	true	194,050	Williams syndrome	true
211	MONDO:0008678	169	null	[ "HP:0000687", "HP:0000691" ]	null	European	null	null	null	(adolescent)	male	true	194,050	Williams syndrome	true
212	MONDO:0008678	170	null	[]	null	European	null	null	null	(adult)	male	true	194,050	Williams syndrome	false
214	MONDO:0008678	172	null	[]	null	Others	Others	null	null	(adult)	female	true	194,050	Williams syndrome	false
215	MONDO:0008678	173	null	[]	null	Others	Others	null	null	(child)	female	true	194,050	Williams syndrome	false
217	MONDO:0008678	175	null	[ "HP:0000293", "HP:0000414", "HP:0012368", "HP:0012471" ]	null	Asian	South Asian	0	5	null	unknown	true	194,050	Williams syndrome	true
218	MONDO:0008678	176	null	[ "HP:0000293", "HP:0000414", "HP:0012368", "HP:0012471" ]	null	Asian	South Asian	0	8	null	unknown	true	194,050	Williams syndrome	true
219	MONDO:0008678	177	null	[ "HP:0000414", "HP:0012471" ]	null	Asian	South Asian	1	3	null	unknown	true	194,050	Williams syndrome	true
220	MONDO:0008678	178	null	[ "HP:0000414", "HP:0012471" ]	null	Asian	South Asian	2	0	null	male	true	194,050	Williams syndrome	true
221	MONDO:0008678	179	null	[ "HP:0000414", "HP:0012471" ]	null	Asian	South Asian	5	0	null	male	true	194,050	Williams syndrome	true
222	MONDO:0008678	180	null	[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]	null	Asian	South Asian	7	0	null	male	true	194,050	Williams syndrome	true
223	MONDO:0008678	181	null	[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]	null	Asian	South Asian	8	0	null	male	true	194,050	Williams syndrome	true
224	MONDO:0008678	182	null	[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]	null	Asian	South Asian	10	0	null	male	true	194,050	Williams syndrome	true
225	MONDO:0008678	183	null	[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]	null	Asian	South Asian	11	0	null	male	true	194,050	Williams syndrome	true
226	MONDO:0008678	184	null	[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]	null	Asian	South Asian	13	0	null	male	true	194,050	Williams syndrome	true
227	MONDO:0008678	185	null	[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]	null	Asian	South Asian	18	0	null	male	true	194,050	Williams syndrome	true
230	MONDO:0008678	188	null	[ "HP:0000154", "HP:0000293", "HP:0000306", "HP:0000343", "HP:0003196" ]	null	European	null	1	3	null	male	true	194,050	Williams syndrome	true
231	MONDO:0008678	188	null	[ "HP:0000154", "HP:0000293", "HP:0000306", "HP:0000343", "HP:0003196" ]	null	European	null	3	0	null	male	true	194,050	Williams syndrome	true
232	MONDO:0008678	188	null	[ "HP:0000154", "HP:0000293", "HP:0000306", "HP:0000343", "HP:0003196" ]	null	European	null	21	0	null	male	true	194,050	Williams syndrome	true
233	MONDO:0008678	189	null	[]	null	European	null	21	0	null	male	true	194,050	Williams syndrome	false
235	MONDO:0008678	191	null	[ "HP:0000023", "HP:0000154", "HP:0000272", "HP:0000293", "HP:0000341", "HP:0000343", "HP:0000347", "HP:0000431", "HP:0000472", "HP:0000629", "HP:0000689", "HP:0001256", "HP:0001609", "HP:0003196", "HP:0004322", "HP:0004325", "HP:0009748", "HP:0011229", "HP:0011968", "HP:0012471"...	HP:0000750;HP:0001270	Asian	Middle-East/West Asian	8	0	null	female	true	194,050	Williams syndrome	true
236	MONDO:0008678	192	null	[ "HP:0000023", "HP:0000154", "HP:0000272", "HP:0000286", "HP:0000293", "HP:0000341", "HP:0000343", "HP:0000347", "HP:0000472", "HP:0000486", "HP:0000629", "HP:0000689", "HP:0001256", "HP:0001388", "HP:0001609", "HP:0003196", "HP:0005274", "HP:0008872", "HP:0009748", "HP:0011229"...	null	Asian	Middle-East/West Asian	3	0	null	male	true	194,050	Williams syndrome	true
237	MONDO:0008678	193	null	[ "HP:0000272", "HP:0000341", "HP:0000343", "HP:0000472", "HP:0000486", "HP:0000689", "HP:0001388", "HP:0001609", "HP:0005274", "HP:0009748", "HP:0011229" ]	HP:0003116	Asian	Middle-East/West Asian	44	0	null	male	true	194,050	Williams syndrome	true
238	MONDO:0008678	194	null	[ "HP:0000293", "HP:0000343", "HP:0000629", "HP:0001263", "HP:0002019", "HP:0002558", "HP:0005274", "HP:0012471" ]	null	European	null	4	0	null	female	true	194,050	Williams syndrome	true
239	MONDO:0008678	195	ELN, LIMK1	[ "HP:0000010", "HP:0000252", "HP:0000822", "HP:0001249", "HP:0002020", "HP:0002036", "HP:0004322", "HP:0004381", "HP:0004712", "HP:0008455", "HP:0008872", "HP:0010450" ]	null	European	null	13	0	null	female	true	194,050	Williams syndrome	true
244	MONDO:0008678	197	ELN, LIMK1	[ "HP:0000125", "HP:0000252", "HP:0004322", "HP:0004325", "HP:0004381", "HP:0004415", "HP:0008872", "HP:0012304" ]	null	European	null	0	8	null	female	true	194,050	Williams syndrome	true
246	MONDO:0008678	198	null	[ "HP:0000316", "HP:0000347", "HP:0000360", "HP:0000362", "HP:0000369", "HP:0000411", "HP:0000486", "HP:0001263", "HP:0001653", "HP:0002588", "HP:0002751", "HP:0002857", "HP:0004381", "HP:0004428", "HP:0008513", "HP:0008542", "HP:0010780", "HP:0010808", "HP:0012745", "HP:0012781"...	HP:0004452;HP:0040090	European	null	27	0	null	female	true	194,050	Williams syndrome	true
249	MONDO:0016033	200	null	[ "HP:0000135", "HP:0000233", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000670", "HP:0000684", "HP:0000767", "HP:0000965", "HP:0001007", "HP:0001773", "HP:0001863", "HP:0002090", "HP:0002463", "HP:0002557", "HP:0002714"...	HP:0003116	Asian	Middle-East/West Asian	10	0	null	male	true	122,470	Cornelia de Lange syndrome	true
251	MONDO:0016033	202	null	[ "HP:0000248", "HP:0000263", "HP:0000294", "HP:0000347", "HP:0000463", "HP:0000470", "HP:0000501", "HP:0000527", "HP:0000664", "HP:0000925", "HP:0000961", "HP:0001007", "HP:0001250", "HP:0001510", "HP:0001537", "HP:0001773", "HP:0002162", "HP:0002714", "HP:0008439", "HP:0010864"...	HP:0000077;HP:0000175;HP:0000193;HP:0000219;HP:0000369;HP:0001377;HP:0001539;HP:0001883;HP:0002002;HP:0004691;HP:0007598;HP:0012165	European	null	7	0	null	female	true	122,470	Cornelia de Lange syndrome	true
252	MONDO:0016033	203	null	[ "HP:0000219", "HP:0000252", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0002553", "HP:0002705", "HP:0002714", "HP:0003194", "HP:0011231" ]	null	European	null	null	null	(child)	male	true	122,470	Cornelia de Lange syndrome	true
253	MONDO:0016033	204	NIPBL	[]	null	African	North African	null	null	(child)	male	true	122,470	Cornelia de Lange syndrome	false
256	MONDO:0016033	207	SMC1A	[]	null	European	null	null	null	(child)	male	true	122,470	Cornelia de Lange syndrome	false
257	MONDO:0016033	208	SMC3	[]	null	European	null	null	null	(child)	female	true	122,470	Cornelia de Lange syndrome	false
258	MONDO:0016033	209	RAD21	[]	null	European	null	null	null	(child)	female	true	122,470	Cornelia de Lange syndrome	false
259	MONDO:0016033	210	HDAC8	[]	null	European	null	null	null	(child)	male	true	122,470	Cornelia de Lange syndrome	false
262	MONDO:0016033	213	NIPBL	[ "HP:0000047", "HP:0000233", "HP:0000347", "HP:0000365", "HP:0000429", "HP:0000664", "HP:0000954", "HP:0001007", "HP:0001773", "HP:0002020", "HP:0005562", "HP:0008689", "HP:0012810", "HP:0200055" ]	null	European	null	null	null	(child)	unknown	true	122,470	Cornelia de Lange syndrome	true
263	MONDO:0016033	214	null	[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001007", "HP:0001510", "HP:0001653", "HP:0001773", "HP:0001883", "HP:0002487", "HP:0003196", "HP:0005469", "HP:0009623", "HP:0012725", "HP:0025429", "HP:0200055"...	null	European	null	3	0	null	female	true	122,470	Cornelia de Lange syndrome	true
264	MONDO:0016033	215	null	[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000463", "HP:0000470", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001007", "HP:0001263", "HP:0001510", "HP:0001773", "HP:0001845", "HP:0002021", "HP:0002487", "HP:0003196", "HP:0005469", "HP:0007598", "HP:0009623"...	null	European	null	0	6	null	male	true	122,470	Cornelia de Lange syndrome	true
273	MONDO:0016033	219	null	[ "HP:0000233", "HP:0000426", "HP:0000574", "HP:0003196", "HP:0005274", "HP:0030791" ]	null	European	null	null	null	(adult)	female	true	122,470	Cornelia de Lange syndrome	true
274	MONDO:0016033	220	null	[ "HP:0000574", "HP:0003196", "HP:0005274", "HP:0010803", "HP:0011230" ]	null	European	null	null	null	(adult)	male	true	122,470	Cornelia de Lange syndrome	true
275	MONDO:0016033	221	null	[ "HP:0000028", "HP:0000215", "HP:0000220", "HP:0000278", "HP:0000451", "HP:0000463", "HP:0000582", "HP:0000664", "HP:0000767", "HP:0000823", "HP:0000938", "HP:0001212", "HP:0001347", "HP:0001611", "HP:0001618", "HP:0001773", "HP:0002057", "HP:0002194", "HP:0002236", "HP:0002370"...	null	European	null	14	10	null	male	true	122,470	Cornelia de Lange syndrome	true
277	MONDO:0016033	222	null	[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000347", "HP:0000451", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001187", "HP:0001944", "HP:0002002", "HP:0002553", "HP:0002714", "HP:0002983", "HP:0003196", "HP:0004322", "HP:0011119", "HP:0011338", "HP:0011968", "HP:0012746"...	HP:0000175;HP:0000294;HP:0000365;HP:0000776;HP:0001250;HP:0001264;HP:0005775	European	null	0	4	null	female	true	122,470	Cornelia de Lange syndrome	true
278	MONDO:0016033	222	null	[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000347", "HP:0000451", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001187", "HP:0001944", "HP:0002002", "HP:0002553", "HP:0002714", "HP:0002983", "HP:0003196", "HP:0004322", "HP:0011119", "HP:0011338", "HP:0011968", "HP:0012746"...	HP:0000175;HP:0000294;HP:0000365;HP:0000776;HP:0001250;HP:0001264;HP:0005775	European	null	1	9	null	female	true	122,470	Cornelia de Lange syndrome	true
279	MONDO:0016033	222	null	[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000347", "HP:0000451", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001187", "HP:0001944", "HP:0002002", "HP:0002553", "HP:0002714", "HP:0002983", "HP:0003196", "HP:0004322", "HP:0011119", "HP:0011338", "HP:0011968", "HP:0012746"...	HP:0000175;HP:0000294;HP:0000365;HP:0000776;HP:0001250;HP:0001264;HP:0005775	European	null	3	0	null	female	true	122,470	Cornelia de Lange syndrome	true
283	MONDO:0016033	223	null	[ "HP:0000233", "HP:0000252", "HP:0000343", "HP:0000527", "HP:0000664", "HP:0002983" ]	null	European	null	0	7	null	female	true	122,470	Cornelia de Lange syndrome	true
285	MONDO:0016033	225	null	[ "HP:0000233", "HP:0000252", "HP:0000343", "HP:0000527", "HP:0000664", "HP:0002983" ]	null	European	null	2	6	null	female	true	122,470	Cornelia de Lange syndrome	true
286	MONDO:0016033	226	null	[ "HP:0000233", "HP:0000252", "HP:0000343", "HP:0000527", "HP:0000664", "HP:0002983" ]	null	European	null	16	0	null	female	true	122,470	Cornelia de Lange syndrome	true
287	MONDO:0016033	227	null	[ "HP:0000233", "HP:0000248", "HP:0000252", "HP:0000463", "HP:0000470", "HP:0000527", "HP:0000534", "HP:0002714", "HP:0007665", "HP:0009623", "HP:0011231" ]	null	European	null	2	0	null	male	true	122,470	Cornelia de Lange syndrome	true
288	MONDO:0016033	228	null	[ "HP:0000527", "HP:0002714", "HP:0009623" ]	null	European	null	2	6	null	male	true	122,470	Cornelia de Lange syndrome	true
289	MONDO:0016033	229	null	[ "HP:0000527", "HP:0002714", "HP:0009623" ]	null	European	null	3	6	null	male	true	122,470	Cornelia de Lange syndrome	true
291	MONDO:0016033	231	null	[ "HP:0000527", "HP:0002714", "HP:0009623" ]	null	European	null	0	9	null	male	true	122,470	Cornelia de Lange syndrome	true
292	MONDO:0016033	231	null	[ "HP:0000527", "HP:0002714", "HP:0009623" ]	null	European	null	2	0	null	male	true	122,470	Cornelia de Lange syndrome	true
293	MONDO:0016033	231	null	[ "HP:0000527", "HP:0002714", "HP:0009623" ]	null	European	null	4	0	null	male	true	122,470	Cornelia de Lange syndrome	true
294	MONDO:0016033	231	null	[ "HP:0000527", "HP:0002714", "HP:0009623" ]	null	European	null	30	0	null	male	true	122,470	Cornelia de Lange syndrome	true
295	MONDO:0016033	232	null	[ "HP:0000028", "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000639", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000958", "HP:0001263", "HP:0002120", "HP:0002208", "HP:0002679"...	null	European	null	null	null	(child)	male	true	122,470	Cornelia de Lange syndrome	true
296	MONDO:0016033	233	null	[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000639", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000958", "HP:0001263", "HP:0002208", "HP:0002679", "HP:0002750", "HP:0003138"...	null	European	null	null	null	(child)	female	true	122,470	Cornelia de Lange syndrome	true
297	MONDO:0016033	234	null	[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000639", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000958", "HP:0001263", "HP:0001943", "HP:0002208", "HP:0002750", "HP:0003196"...	null	European	null	null	null	(child)	female	true	122,470	Cornelia de Lange syndrome	true
298	MONDO:0016033	235	null	[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000639", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000958", "HP:0001263", "HP:0002208", "HP:0002750", "HP:0003196", "HP:0004209"...	null	European	null	null	null	(child)	unknown	true	122,470	Cornelia de Lange syndrome	true
299	MONDO:0016033	236	null	[ "HP:0000023", "HP:0000028", "HP:0000054", "HP:0000233", "HP:0000252", "HP:0000264", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000470", "HP:0000475", "HP:0000527", "HP:0000574", "HP:0000939", "HP:0000954", "HP:0000965", "HP:0000998"...	HP:0000294;HP:0000961;HP:0010806	European	null	2	0	(child)	male	true	122,470	Cornelia de Lange syndrome	true
300	MONDO:0016033	237	null	[ "HP:0000023", "HP:0000028", "HP:0000047", "HP:0000054", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000470", "HP:0000475", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000954", "HP:0000965", "HP:0000998"...	HP:0000347;HP:0000961;HP:0002572;HP:0004691	European	null	2	7	(child)	male	true	122,470	Cornelia de Lange syndrome	true
302	MONDO:0016033	239	null	[ "HP:0000028", "HP:0000047", "HP:0000054", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000691", "HP:0000939", "HP:0000954", "HP:0000998", "HP:0001182", "HP:0001249"...	HP:0000961;HP:0000965;HP:0001252;HP:0001627;HP:0002015;HP:0002572;HP:0002719	European	null	10	0	(child)	male	true	122,470	Cornelia de Lange syndrome	true
303	MONDO:0016033	240	null	[ "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000998", "HP:0001182", "HP:0001498", "HP:0001510", "HP:0001552", "HP:0002015", "HP:0002673", "HP:0002684", "HP:0002983", "HP:0002986", "HP:0002996", "HP:0003022"...	HP:0000298;HP:0000316;HP:0000494;HP:0000954;HP:0000961;HP:0000965;HP:0001252;HP:0001773;HP:0002572;HP:0002705;HP:0002719;HP:0003196;HP:0004691;HP:0005280;HP:0010806	European	null	10	7	(child)	female	true	122,470	Cornelia de Lange syndrome	true
304	MONDO:0016033	241	null	[ "HP:0000175", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000475", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000691", "HP:0000965", "HP:0000998", "HP:0001182"...	HP:0000954;HP:0000961;HP:0001252;HP:0002015;HP:0002572;HP:0002705;HP:0002719	European	null	11	3	(child)	female	true	122,470	Cornelia de Lange syndrome	true
305	MONDO:0016033	242	null	[ "HP:0000028", "HP:0000047", "HP:0000054", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000343", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000691", "HP:0000939", "HP:0000954", "HP:0000965", "HP:0001054", "HP:0001182", "HP:0001498", "HP:0001510", "HP:0001552"...	HP:0000316;HP:0000347;HP:0000494;HP:0000961;HP:0000998;HP:0001252;HP:0002705;HP:0002996	European	null	11	4	(child)	male	true	122,470	Cornelia de Lange syndrome	true
306	MONDO:0016033	243	null	[ "HP:0000028", "HP:0000054", "HP:0000175", "HP:0000177", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000470", "HP:0000475", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000939", "HP:0000961", "HP:0000965"...	HP:0000954;HP:0001773;HP:0002996;HP:0005280;HP:0009623	European	null	11	5	(child)	female	true	122,470	Cornelia de Lange syndrome	true
307	MONDO:0016033	244	null	[ "HP:0000028", "HP:0000054", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000470", "HP:0000475", "HP:0000527", "HP:0000574", "HP:0000954", "HP:0001054", "HP:0001182", "HP:0001773", "HP:0002750", "HP:0002983", "HP:0002986", "HP:0002996"...	HP:0000298;HP:0000316;HP:0000494;HP:0000961;HP:0000998;HP:0001249;HP:0001252;HP:0001510;HP:0001627;HP:0002572;HP:0002705;HP:0002719;HP:0005280;HP:0009623	European	null	12	0	(child)	female	true	122,470	Cornelia de Lange syndrome	true
308	MONDO:0016033	245	null	[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000475", "HP:0000527", "HP:0000574", "HP:0000691", "HP:0000998", "HP:0001182", "HP:0001245", "HP:0001252", "HP:0001510", "HP:0001761"...	HP:0000028;HP:0000054;HP:0000316;HP:0000494;HP:0000954;HP:0000961;HP:0000965;HP:0001773;HP:0002015;HP:0002572;HP:0002705;HP:0003196	European	null	19	0	(child)	male	true	122,470	Cornelia de Lange syndrome	true
310	MONDO:0016033	247	null	[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000475", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000998", "HP:0001182", "HP:0001252", "HP:0001510", "HP:0001852", "HP:0002353"...	HP:0000347;HP:0000954;HP:0000965;HP:0001627;HP:0001773;HP:0002705;HP:0002996;HP:0003196;HP:0005280	European	null	19	4	(child)	female	true	122,470	Cornelia de Lange syndrome	true
313	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	0	1	null	male	true	122,470	Cornelia de Lange syndrome	true
314	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	0	6	null	male	true	122,470	Cornelia de Lange syndrome	true
315	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	2	0	null	male	true	122,470	Cornelia de Lange syndrome	true
316	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	3	0	null	male	true	122,470	Cornelia de Lange syndrome	true
317	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	4	0	null	male	true	122,470	Cornelia de Lange syndrome	true
318	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	5	0	null	male	true	122,470	Cornelia de Lange syndrome	true
319	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	6	0	null	male	true	122,470	Cornelia de Lange syndrome	true
320	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	7	0	null	male	true	122,470	Cornelia de Lange syndrome	true
321	MONDO:0016033	250	null	[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...	null	European	null	8	0	null	male	true	122,470	Cornelia de Lange syndrome	true
322	MONDO:0016033	251	null	[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000368", "HP:0000463", "HP:0000494", "HP:0000508", "HP:0000664", "HP:0000954", "HP:0000965", "HP:0000998", "HP:0001245", "HP:0001270", "HP:0001518", "HP:0001840", "HP:0002342", "HP:0002987"...	null	European	null	10	6	null	female	true	122,470	Cornelia de Lange syndrome	true
324	MONDO:0016033	253	null	[ "HP:0000248", "HP:0000252", "HP:0000358", "HP:0000527", "HP:0000664", "HP:0000998", "HP:0001344", "HP:0001773", "HP:0001831", "HP:0002002", "HP:0002553", "HP:0002986", "HP:0004209", "HP:0004220", "HP:0004279", "HP:0007598", "HP:0008551", "HP:0009173", "HP:0009381", "HP:0009623"...	HP:0000340;HP:0002814;HP:0002996;HP:0002997;HP:0003974;HP:0003982	European	null	1	2	null	female	true	122,470	Cornelia de Lange syndrome	true
325	MONDO:0016033	254	null	[ "HP:0000028", "HP:0000054", "HP:0000248", "HP:0000252", "HP:0000358", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000954", "HP:0001773", "HP:0001831", "HP:0002002", "HP:0002553", "HP:0002986", "HP:0002997", "HP:0003974", "HP:0003982", "HP:0004209", "HP:0004279", "HP:0009173"...	HP:0000340;HP:0002814;HP:0002996;HP:0008551	Others	American - Latin/Hispanic	1	0	null	male	true	122,470	Cornelia de Lange syndrome	true
326	MONDO:0016033	255	null	[ "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000358", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0001773", "HP:0001831", "HP:0002553", "HP:0004209", "HP:0004220", "HP:0004279", "HP:0009173", "HP:0009381", "HP:0009623", "HP:0009778", "HP:0010034", "HP:0010047", "HP:0011220"...	HP:0000340;HP:0000954;HP:0002996;HP:0002997;HP:0003974;HP:0003982;HP:0008551	European	null	0	11	null	female	true	122,470	Cornelia de Lange syndrome	true
327	MONDO:0016033	256	null	[ "HP:0000028", "HP:0000054", "HP:0000248", "HP:0000252", "HP:0000358", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0001773", "HP:0001831", "HP:0002002", "HP:0002553", "HP:0004209", "HP:0004279", "HP:0005272", "HP:0009381", "HP:0009623", "HP:0009778", "HP:0010034", "HP:0011220"...	HP:0000340;HP:0000954;HP:0002814;HP:0002996;HP:0002997;HP:0003974;HP:0003982;HP:0008551;HP:0010029	European	null	1	1	null	male	true	122,470	Cornelia de Lange syndrome	true
329	MONDO:0016033	258	null	[ "HP:0000316", "HP:0000343", "HP:0000358", "HP:0000451", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001256", "HP:0001263", "HP:0001510", "HP:0002230", "HP:0004209", "HP:0004322", "HP:0006394", "HP:0007598", "HP:0008551", "HP:0009237"...	null	European	null	13	0	null	male	true	122,470	Cornelia de Lange syndrome	true
330	MONDO:0016033	258	null	[ "HP:0000316", "HP:0000343", "HP:0000358", "HP:0000451", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001256", "HP:0001263", "HP:0001510", "HP:0002230", "HP:0004209", "HP:0004322", "HP:0006394", "HP:0007598", "HP:0008551", "HP:0009237"...	null	European	null	13	0	null	male	true	122,470	Cornelia de Lange syndrome	true
341	MONDO:0008678	260	null	[ "HP:0000369", "HP:0000486", "HP:0000664", "HP:0000737", "HP:0001233", "HP:0001252", "HP:0001263", "HP:0001943", "HP:0002230", "HP:0002572", "HP:0004279", "HP:0009381", "HP:0009803", "HP:0010487", "HP:0010804", "HP:0011968", "HP:0100543", "HP:0100853" ]	null	European	null	10	6	null	male	true	194,050	Williams syndrome	true
345	MONDO:0016033	262	null	[ "HP:0000252", "HP:0000508", "HP:0000545", "HP:0000613", "HP:0000639", "HP:0000664", "HP:0001156", "HP:0001256", "HP:0006216", "HP:0009536", "HP:0009889", "HP:0011917", "HP:0030084" ]	HP:0000119;HP:0000175;HP:0000218;HP:0000368;HP:0000965;HP:0001510;HP:0001627;HP:0001773;HP:0002996;HP:0004279;HP:0004691;HP:0007598;HP:0010300	European	null	8	0	null	male	true	122,470	Cornelia de Lange syndrome	true
346	MONDO:0016033	263	null	[ "HP:0000252", "HP:0000278", "HP:0000664", "HP:0000954", "HP:0001156", "HP:0001256", "HP:0001510", "HP:0001518", "HP:0001773", "HP:0004209", "HP:0004279", "HP:0004322", "HP:0006216", "HP:0009237", "HP:0011800", "HP:0030084" ]	HP:0000119;HP:0000175;HP:0000218;HP:0000368;HP:0000486;HP:0000639;HP:0000965;HP:0001007;HP:0001627;HP:0002996;HP:0004691;HP:0010300	European	null	12	0	null	male	true	122,470	Cornelia de Lange syndrome	true
349	MONDO:0016033	266	null	[ "HP:0000164", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000965", "HP:0001007", "HP:0001249", "HP:0001773", "HP:0002557", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0008897"...	HP:0000316;HP:0000369;HP:0000811;HP:0001511;HP:0002705;HP:0002996;HP:0003011;HP:0003196;HP:0005280;HP:0040064	European	null	3	3	null	male	true	122,470	Cornelia de Lange syndrome	true
351	MONDO:0016033	268	null	[ "HP:0000164", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001007", "HP:0001249", "HP:0002705", "HP:0008897", "HP:0025356" ]	HP:0000316;HP:0000319;HP:0000369;HP:0000574;HP:0000811;HP:0001511;HP:0001773;HP:0002557;HP:0002714;HP:0002996;HP:0003011;HP:0003196;HP:0004279;HP:0005280;HP:0009623	European	null	7	9	null	female	true	122,470	Cornelia de Lange syndrome	true
352	MONDO:0016033	269	null	[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001249", "HP:0001773", "HP:0002557", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0009623", "HP:0025356", "HP:0025429" ]	HP:0000164;HP:0000316;HP:0000347;HP:0000369;HP:0000574;HP:0000811;HP:0001007;HP:0001511;HP:0002705;HP:0002996;HP:0003011;HP:0003196;HP:0005280;HP:0008897;HP:0040064	European	null	10	2	null	female	true	122,470	Cornelia de Lange syndrome	true
353	MONDO:0016033	270	null	[ "HP:0000164", "HP:0000233", "HP:0000252", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000965", "HP:0001007", "HP:0001249", "HP:0001511", "HP:0001773", "HP:0002714", "HP:0003196", "HP:0004209", "HP:0004279", "HP:0005280", "HP:0008897"...	HP:0000294;HP:0000319;HP:0000369;HP:0000811;HP:0002557;HP:0002705;HP:0002996;HP:0003011;HP:0025429;HP:0040064	European	null	4	3	null	male	true	122,470	Cornelia de Lange syndrome	true
354	MONDO:0016033	271	NIPBL	[ "HP:0000233", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0002553", "HP:0005280" ]	null	European	null	null	null	-	female	true	122,470	Cornelia de Lange syndrome	true
355	MONDO:0016033	272	NIPBL	[ "HP:0000218", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000341", "HP:0000343", "HP:0000347", "HP:0000365", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000545", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000965", "HP:0001249", "HP:0001250", "HP:0001344"...	HP:0000119;HP:0001627	Others	American - Latin/Hispanic	4	0	-	female	true	122,470	Cornelia de Lange syndrome	true
356	MONDO:0016033	273	NIPBL	[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000965", "HP:0001249", "HP:0001270", "HP:0001508", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0004322", "HP:0004325", "HP:0005280"...	HP:0000119;HP:0000175;HP:0000218;HP:0000365;HP:0000508;HP:0000545;HP:0000687;HP:0000691;HP:0001007;HP:0001627;HP:0007678	Others	Others	null	null	-	male	true	122,470	Cornelia de Lange syndrome	true
359	MONDO:0016033	276	NIPBL	[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000365", "HP:0000369", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000729", "HP:0000750", "HP:0000965", "HP:0001270", "HP:0001773", "HP:0002099", "HP:0002714", "HP:0004209", "HP:0004279"...	HP:0000119;HP:0000175;HP:0000218;HP:0000508;HP:0000687;HP:0000691;HP:0001627;HP:0002020;HP:0002553;HP:0008872	Others	Others	null	null	-	male	true	122,470	Cornelia de Lange syndrome	true

199

MONDO:0008678

159

null

[ "HP:0000629", "HP:0001328", "HP:0001518", "HP:0004209", "HP:0004322", "HP:0004381", "HP:0006895", "HP:0012775", "HP:0030148" ]

null

European

null

16

0

null

female

true

194,050

Williams syndrome

true

203

MONDO:0008678

163

null

[ "HP:0000286", "HP:0000288", "HP:0000331", "HP:0000463", "HP:0000629", "HP:0004426", "HP:0005272", "HP:0011218" ]

null

African

African Others

null

(infant)

female

true

194,050

Williams syndrome

true

204

MONDO:0008678

164

null

[ "HP:0000286", "HP:0000331", "HP:0000414", "HP:0000472", "HP:0000629" ]

null

European

null

(infant)

male

true

194,050

Williams syndrome

true

207

MONDO:0008678

166

null

[ "HP:0000178", "HP:0000276", "HP:0000331", "HP:0000691" ]

null

Others

null

(child)

female

true

194,050

Williams syndrome

true

209

MONDO:0008678

167

null

[ "HP:0000276", "HP:0000288", "HP:0000343", "HP:0000414", "HP:0000463", "HP:0000525", "HP:0012471" ]

null

European

null

(adolescent)

male

true

194,050

Williams syndrome

true

210

MONDO:0008678

168

null

[ "HP:0000691", "HP:0000767", "HP:0001252", "HP:0001538", "HP:0002212", "HP:0009826" ]

null

Others

null

(child)

female

true

194,050

Williams syndrome

true

211

MONDO:0008678

169

null

[ "HP:0000687", "HP:0000691" ]

null

European

null

(adolescent)

male

true

194,050

Williams syndrome

true

212

MONDO:0008678

170

null

[]

null

European

null

(adult)

male

true

194,050

Williams syndrome

false

214

MONDO:0008678

172

null

[]

null

Others

null

(adult)

female

true

194,050

Williams syndrome

false

215

MONDO:0008678

173

null

[]

null

Others

null

(child)

female

true

194,050

Williams syndrome

false

217

MONDO:0008678

175

null

[ "HP:0000293", "HP:0000414", "HP:0012368", "HP:0012471" ]

null

Asian

South Asian

0

5

null

unknown

true

194,050

Williams syndrome

true

218

MONDO:0008678

176

null

[ "HP:0000293", "HP:0000414", "HP:0012368", "HP:0012471" ]

null

Asian

South Asian

0

8

null

unknown

true

194,050

Williams syndrome

true

219

MONDO:0008678

177

null

[ "HP:0000414", "HP:0012471" ]

null

Asian

South Asian

1

3

null

unknown

true

194,050

Williams syndrome

true

220

MONDO:0008678

178

null

[ "HP:0000414", "HP:0012471" ]

null

Asian

South Asian

2

0

null

male

true

194,050

Williams syndrome

true

221

MONDO:0008678

179

null

[ "HP:0000414", "HP:0012471" ]

null

Asian

South Asian

5

0

null

male

true

194,050

Williams syndrome

true

222

MONDO:0008678

180

null

[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]

null

Asian

South Asian

7

0

null

male

true

194,050

Williams syndrome

true

223

MONDO:0008678

181

null

[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]

null

Asian

South Asian

8

0

null

male

true

194,050

Williams syndrome

true

224

MONDO:0008678

182

null

[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]

null

Asian

South Asian

10

0

null

male

true

194,050

Williams syndrome

true

225

MONDO:0008678

183

null

[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]

null

Asian

South Asian

11

0

null

male

true

194,050

Williams syndrome

true

226

MONDO:0008678

184

null

[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]

null

Asian

South Asian

13

0

null

male

true

194,050

Williams syndrome

true

227

MONDO:0008678

185

null

[ "HP:0000414", "HP:0000472", "HP:0012471", "HP:0200021" ]

null

Asian

South Asian

18

0

null

male

true

194,050

Williams syndrome

true

230

MONDO:0008678

188

null

[ "HP:0000154", "HP:0000293", "HP:0000306", "HP:0000343", "HP:0003196" ]

null

European

null

1

3

null

male

true

194,050

Williams syndrome

true

231

MONDO:0008678

188

null

[ "HP:0000154", "HP:0000293", "HP:0000306", "HP:0000343", "HP:0003196" ]

null

European

null

3

0

null

male

true

194,050

Williams syndrome

true

232

MONDO:0008678

188

null

[ "HP:0000154", "HP:0000293", "HP:0000306", "HP:0000343", "HP:0003196" ]

null

European

null

21

0

null

male

true

194,050

Williams syndrome

true

233

MONDO:0008678

189

null

[]

null

European

null

21

0

null

male

true

194,050

Williams syndrome

false

235

MONDO:0008678

191

null

[ "HP:0000023", "HP:0000154", "HP:0000272", "HP:0000293", "HP:0000341", "HP:0000343", "HP:0000347", "HP:0000431", "HP:0000472", "HP:0000629", "HP:0000689", "HP:0001256", "HP:0001609", "HP:0003196", "HP:0004322", "HP:0004325", "HP:0009748", "HP:0011229", "HP:0011968", "HP:0012471"...

HP:0000750;HP:0001270

Asian

Middle-East/West Asian

8

0

null

female

true

194,050

Williams syndrome

true

236

MONDO:0008678

192

null

[ "HP:0000023", "HP:0000154", "HP:0000272", "HP:0000286", "HP:0000293", "HP:0000341", "HP:0000343", "HP:0000347", "HP:0000472", "HP:0000486", "HP:0000629", "HP:0000689", "HP:0001256", "HP:0001388", "HP:0001609", "HP:0003196", "HP:0005274", "HP:0008872", "HP:0009748", "HP:0011229"...

null

Asian

Middle-East/West Asian

3

0

null

male

true

194,050

Williams syndrome

true

237

MONDO:0008678

193

null

[ "HP:0000272", "HP:0000341", "HP:0000343", "HP:0000472", "HP:0000486", "HP:0000689", "HP:0001388", "HP:0001609", "HP:0005274", "HP:0009748", "HP:0011229" ]

HP:0003116

Asian

Middle-East/West Asian

44

0

null

male

true

194,050

Williams syndrome

true

238

MONDO:0008678

194

null

[ "HP:0000293", "HP:0000343", "HP:0000629", "HP:0001263", "HP:0002019", "HP:0002558", "HP:0005274", "HP:0012471" ]

null

European

null

4

0

null

female

true

194,050

Williams syndrome

true

239

MONDO:0008678

195

ELN, LIMK1

[ "HP:0000010", "HP:0000252", "HP:0000822", "HP:0001249", "HP:0002020", "HP:0002036", "HP:0004322", "HP:0004381", "HP:0004712", "HP:0008455", "HP:0008872", "HP:0010450" ]

null

European

null

13

0

null

female

true

194,050

Williams syndrome

true

244

MONDO:0008678

197

ELN, LIMK1

[ "HP:0000125", "HP:0000252", "HP:0004322", "HP:0004325", "HP:0004381", "HP:0004415", "HP:0008872", "HP:0012304" ]

null

European

null

0

8

null

female

true

194,050

Williams syndrome

true

246

MONDO:0008678

198

null

[ "HP:0000316", "HP:0000347", "HP:0000360", "HP:0000362", "HP:0000369", "HP:0000411", "HP:0000486", "HP:0001263", "HP:0001653", "HP:0002588", "HP:0002751", "HP:0002857", "HP:0004381", "HP:0004428", "HP:0008513", "HP:0008542", "HP:0010780", "HP:0010808", "HP:0012745", "HP:0012781"...

HP:0004452;HP:0040090

European

null

27

0

null

female

true

194,050

Williams syndrome

true

249

MONDO:0016033

200

null

[ "HP:0000135", "HP:0000233", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000670", "HP:0000684", "HP:0000767", "HP:0000965", "HP:0001007", "HP:0001773", "HP:0001863", "HP:0002090", "HP:0002463", "HP:0002557", "HP:0002714"...

HP:0003116

Asian

Middle-East/West Asian

10

0

null

male

true

122,470

Cornelia de Lange syndrome

true

251

MONDO:0016033

202

null

[ "HP:0000248", "HP:0000263", "HP:0000294", "HP:0000347", "HP:0000463", "HP:0000470", "HP:0000501", "HP:0000527", "HP:0000664", "HP:0000925", "HP:0000961", "HP:0001007", "HP:0001250", "HP:0001510", "HP:0001537", "HP:0001773", "HP:0002162", "HP:0002714", "HP:0008439", "HP:0010864"...

HP:0000077;HP:0000175;HP:0000193;HP:0000219;HP:0000369;HP:0001377;HP:0001539;HP:0001883;HP:0002002;HP:0004691;HP:0007598;HP:0012165

European

null

7

0

null

female

true

122,470

Cornelia de Lange syndrome

true

252

MONDO:0016033

203

null

[ "HP:0000219", "HP:0000252", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0002553", "HP:0002705", "HP:0002714", "HP:0003194", "HP:0011231" ]

null

European

null

(child)

male

true

122,470

Cornelia de Lange syndrome

true

253

MONDO:0016033

204

NIPBL

[]

null

African

North African

null

(child)

male

true

122,470

Cornelia de Lange syndrome

false

256

MONDO:0016033

207

SMC1A

[]

null

European

null

(child)

male

true

122,470

Cornelia de Lange syndrome

false

257

MONDO:0016033

208

SMC3

[]

null

European

null

(child)

female

true

122,470

Cornelia de Lange syndrome

false

258

MONDO:0016033

209

RAD21

[]

null

European

null

(child)

female

true

122,470

Cornelia de Lange syndrome

false

259

MONDO:0016033

210

HDAC8

[]

null

European

null

(child)

male

true

122,470

Cornelia de Lange syndrome

false

262

MONDO:0016033

213

NIPBL

[ "HP:0000047", "HP:0000233", "HP:0000347", "HP:0000365", "HP:0000429", "HP:0000664", "HP:0000954", "HP:0001007", "HP:0001773", "HP:0002020", "HP:0005562", "HP:0008689", "HP:0012810", "HP:0200055" ]

null

European

null

(child)

unknown

true

122,470

Cornelia de Lange syndrome

true

263

MONDO:0016033

214

null

[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001007", "HP:0001510", "HP:0001653", "HP:0001773", "HP:0001883", "HP:0002487", "HP:0003196", "HP:0005469", "HP:0009623", "HP:0012725", "HP:0025429", "HP:0200055"...

null

European

null

3

0

null

female

true

122,470

Cornelia de Lange syndrome

true

264

MONDO:0016033

215

null

[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000463", "HP:0000470", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001007", "HP:0001263", "HP:0001510", "HP:0001773", "HP:0001845", "HP:0002021", "HP:0002487", "HP:0003196", "HP:0005469", "HP:0007598", "HP:0009623"...

null

European

null

0

6

null

male

true

122,470

Cornelia de Lange syndrome

true

273

MONDO:0016033

219

null

[ "HP:0000233", "HP:0000426", "HP:0000574", "HP:0003196", "HP:0005274", "HP:0030791" ]

null

European

null

(adult)

female

true

122,470

Cornelia de Lange syndrome

true

274

MONDO:0016033

220

null

[ "HP:0000574", "HP:0003196", "HP:0005274", "HP:0010803", "HP:0011230" ]

null

European

null

(adult)

male

true

122,470

Cornelia de Lange syndrome

true

275

MONDO:0016033

221

null

[ "HP:0000028", "HP:0000215", "HP:0000220", "HP:0000278", "HP:0000451", "HP:0000463", "HP:0000582", "HP:0000664", "HP:0000767", "HP:0000823", "HP:0000938", "HP:0001212", "HP:0001347", "HP:0001611", "HP:0001618", "HP:0001773", "HP:0002057", "HP:0002194", "HP:0002236", "HP:0002370"...

null

European

null

14

10

null

male

true

122,470

Cornelia de Lange syndrome

true

277

MONDO:0016033

222

null

[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000347", "HP:0000451", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001187", "HP:0001944", "HP:0002002", "HP:0002553", "HP:0002714", "HP:0002983", "HP:0003196", "HP:0004322", "HP:0011119", "HP:0011338", "HP:0011968", "HP:0012746"...

HP:0000175;HP:0000294;HP:0000365;HP:0000776;HP:0001250;HP:0001264;HP:0005775

European

null

0

4

null

female

true

122,470

Cornelia de Lange syndrome

true

278

MONDO:0016033

222

null

[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000347", "HP:0000451", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001187", "HP:0001944", "HP:0002002", "HP:0002553", "HP:0002714", "HP:0002983", "HP:0003196", "HP:0004322", "HP:0011119", "HP:0011338", "HP:0011968", "HP:0012746"...

HP:0000175;HP:0000294;HP:0000365;HP:0000776;HP:0001250;HP:0001264;HP:0005775

European

null

1

9

null

female

true

122,470

Cornelia de Lange syndrome

true

279

MONDO:0016033

222

null

[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000347", "HP:0000451", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001187", "HP:0001944", "HP:0002002", "HP:0002553", "HP:0002714", "HP:0002983", "HP:0003196", "HP:0004322", "HP:0011119", "HP:0011338", "HP:0011968", "HP:0012746"...

HP:0000175;HP:0000294;HP:0000365;HP:0000776;HP:0001250;HP:0001264;HP:0005775

European

null

3

0

null

female

true

122,470

Cornelia de Lange syndrome

true

283

MONDO:0016033

223

null

[ "HP:0000233", "HP:0000252", "HP:0000343", "HP:0000527", "HP:0000664", "HP:0002983" ]

null

European

null

0

7

null

female

true

122,470

Cornelia de Lange syndrome

true

285

MONDO:0016033

225

null

[ "HP:0000233", "HP:0000252", "HP:0000343", "HP:0000527", "HP:0000664", "HP:0002983" ]

null

European

null

2

6

null

female

true

122,470

Cornelia de Lange syndrome

true

286

MONDO:0016033

226

null

[ "HP:0000233", "HP:0000252", "HP:0000343", "HP:0000527", "HP:0000664", "HP:0002983" ]

null

European

null

16

0

null

female

true

122,470

Cornelia de Lange syndrome

true

287

MONDO:0016033

227

null

[ "HP:0000233", "HP:0000248", "HP:0000252", "HP:0000463", "HP:0000470", "HP:0000527", "HP:0000534", "HP:0002714", "HP:0007665", "HP:0009623", "HP:0011231" ]

null

European

null

2

0

null

male

true

122,470

Cornelia de Lange syndrome

true

288

MONDO:0016033

228

null

[ "HP:0000527", "HP:0002714", "HP:0009623" ]

null

European

null

2

6

null

male

true

122,470

Cornelia de Lange syndrome

true

289

MONDO:0016033

229

null

[ "HP:0000527", "HP:0002714", "HP:0009623" ]

null

European

null

3

6

null

male

true

122,470

Cornelia de Lange syndrome

true

291

MONDO:0016033

231

null

[ "HP:0000527", "HP:0002714", "HP:0009623" ]

null

European

null

0

9

null

male

true

122,470

Cornelia de Lange syndrome

true

292

MONDO:0016033

231

null

[ "HP:0000527", "HP:0002714", "HP:0009623" ]

null

European

null

2

0

null

male

true

122,470

Cornelia de Lange syndrome

true

293

MONDO:0016033

231

null

[ "HP:0000527", "HP:0002714", "HP:0009623" ]

null

European

null

4

0

null

male

true

122,470

Cornelia de Lange syndrome

true

294

MONDO:0016033

231

null

[ "HP:0000527", "HP:0002714", "HP:0009623" ]

null

European

null

30

0

null

male

true

122,470

Cornelia de Lange syndrome

true

295

MONDO:0016033

232

null

[ "HP:0000028", "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000639", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000958", "HP:0001263", "HP:0002120", "HP:0002208", "HP:0002679"...

null

European

null

(child)

male

true

122,470

Cornelia de Lange syndrome

true

296

MONDO:0016033

233

null

[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000639", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000958", "HP:0001263", "HP:0002208", "HP:0002679", "HP:0002750", "HP:0003138"...

null

European

null

(child)

female

true

122,470

Cornelia de Lange syndrome

true

297

MONDO:0016033

234

null

[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000639", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000958", "HP:0001263", "HP:0001943", "HP:0002208", "HP:0002750", "HP:0003196"...

null

European

null

(child)

female

true

122,470

Cornelia de Lange syndrome

true

298

MONDO:0016033

235

null

[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000527", "HP:0000574", "HP:0000639", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000958", "HP:0001263", "HP:0002208", "HP:0002750", "HP:0003196", "HP:0004209"...

null

European

null

(child)

unknown

true

122,470

Cornelia de Lange syndrome

true

299

MONDO:0016033

236

null

[ "HP:0000023", "HP:0000028", "HP:0000054", "HP:0000233", "HP:0000252", "HP:0000264", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000470", "HP:0000475", "HP:0000527", "HP:0000574", "HP:0000939", "HP:0000954", "HP:0000965", "HP:0000998"...

HP:0000294;HP:0000961;HP:0010806

European

null

2

0

(child)

male

true

122,470

Cornelia de Lange syndrome

true

300

MONDO:0016033

237

null

[ "HP:0000023", "HP:0000028", "HP:0000047", "HP:0000054", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000470", "HP:0000475", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000954", "HP:0000965", "HP:0000998"...

HP:0000347;HP:0000961;HP:0002572;HP:0004691

European

null

2

7

(child)

male

true

122,470

Cornelia de Lange syndrome

true

302

MONDO:0016033

239

null

[ "HP:0000028", "HP:0000047", "HP:0000054", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000691", "HP:0000939", "HP:0000954", "HP:0000998", "HP:0001182", "HP:0001249"...

HP:0000961;HP:0000965;HP:0001252;HP:0001627;HP:0002015;HP:0002572;HP:0002719

European

null

10

0

(child)

male

true

122,470

Cornelia de Lange syndrome

true

303

MONDO:0016033

240

null

[ "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000998", "HP:0001182", "HP:0001498", "HP:0001510", "HP:0001552", "HP:0002015", "HP:0002673", "HP:0002684", "HP:0002983", "HP:0002986", "HP:0002996", "HP:0003022"...

HP:0000298;HP:0000316;HP:0000494;HP:0000954;HP:0000961;HP:0000965;HP:0001252;HP:0001773;HP:0002572;HP:0002705;HP:0002719;HP:0003196;HP:0004691;HP:0005280;HP:0010806

European

null

10

7

(child)

female

true

122,470

Cornelia de Lange syndrome

true

304

MONDO:0016033

241

null

[ "HP:0000175", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000475", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000691", "HP:0000965", "HP:0000998", "HP:0001182"...

HP:0000954;HP:0000961;HP:0001252;HP:0002015;HP:0002572;HP:0002705;HP:0002719

European

null

11

3

(child)

female

true

122,470

Cornelia de Lange syndrome

true

305

MONDO:0016033

242

null

[ "HP:0000028", "HP:0000047", "HP:0000054", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000343", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000691", "HP:0000939", "HP:0000954", "HP:0000965", "HP:0001054", "HP:0001182", "HP:0001498", "HP:0001510", "HP:0001552"...

HP:0000316;HP:0000347;HP:0000494;HP:0000961;HP:0000998;HP:0001252;HP:0002705;HP:0002996

European

null

11

4

(child)

male

true

122,470

Cornelia de Lange syndrome

true

306

MONDO:0016033

243

null

[ "HP:0000028", "HP:0000054", "HP:0000175", "HP:0000177", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000470", "HP:0000475", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000939", "HP:0000961", "HP:0000965"...

HP:0000954;HP:0001773;HP:0002996;HP:0005280;HP:0009623

European

null

11

5

(child)

female

true

122,470

Cornelia de Lange syndrome

true

307

MONDO:0016033

244

null

[ "HP:0000028", "HP:0000054", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000470", "HP:0000475", "HP:0000527", "HP:0000574", "HP:0000954", "HP:0001054", "HP:0001182", "HP:0001773", "HP:0002750", "HP:0002983", "HP:0002986", "HP:0002996"...

HP:0000298;HP:0000316;HP:0000494;HP:0000961;HP:0000998;HP:0001249;HP:0001252;HP:0001510;HP:0001627;HP:0002572;HP:0002705;HP:0002719;HP:0005280;HP:0009623

European

null

12

0

(child)

female

true

122,470

Cornelia de Lange syndrome

true

308

MONDO:0016033

245

null

[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000475", "HP:0000527", "HP:0000574", "HP:0000691", "HP:0000998", "HP:0001182", "HP:0001245", "HP:0001252", "HP:0001510", "HP:0001761"...

HP:0000028;HP:0000054;HP:0000316;HP:0000494;HP:0000954;HP:0000961;HP:0000965;HP:0001773;HP:0002015;HP:0002572;HP:0002705;HP:0003196

European

null

19

0

(child)

male

true

122,470

Cornelia de Lange syndrome

true

310

MONDO:0016033

247

null

[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000298", "HP:0000316", "HP:0000343", "HP:0000369", "HP:0000463", "HP:0000465", "HP:0000470", "HP:0000475", "HP:0000494", "HP:0000527", "HP:0000574", "HP:0000998", "HP:0001182", "HP:0001252", "HP:0001510", "HP:0001852", "HP:0002353"...

HP:0000347;HP:0000954;HP:0000965;HP:0001627;HP:0001773;HP:0002705;HP:0002996;HP:0003196;HP:0005280

European

null

19

4

(child)

female

true

122,470

Cornelia de Lange syndrome

true

313

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

0

1

null

male

true

122,470

Cornelia de Lange syndrome

true

314

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

0

6

null

male

true

122,470

Cornelia de Lange syndrome

true

315

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

2

0

null

male

true

122,470

Cornelia de Lange syndrome

true

316

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

3

0

null

male

true

122,470

Cornelia de Lange syndrome

true

317

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

4

0

null

male

true

122,470

Cornelia de Lange syndrome

true

318

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

5

0

null

male

true

122,470

Cornelia de Lange syndrome

true

319

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

6

0

null

male

true

122,470

Cornelia de Lange syndrome

true

320

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

7

0

null

male

true

122,470

Cornelia de Lange syndrome

true

321

MONDO:0016033

250

null

[ "HP:0000219", "HP:0000252", "HP:0000350", "HP:0000358", "HP:0000454", "HP:0000463", "HP:0000486", "HP:0000527", "HP:0000577", "HP:0000664", "HP:0000717", "HP:0000718", "HP:0000752", "HP:0001252", "HP:0001256", "HP:0001639", "HP:0001771", "HP:0002021", "HP:0002208", "HP:0002553"...

null

European

null

8

0

null

male

true

122,470

Cornelia de Lange syndrome

true

322

MONDO:0016033

251

null

[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000368", "HP:0000463", "HP:0000494", "HP:0000508", "HP:0000664", "HP:0000954", "HP:0000965", "HP:0000998", "HP:0001245", "HP:0001270", "HP:0001518", "HP:0001840", "HP:0002342", "HP:0002987"...

null

European

null

10

6

null

female

true

122,470

Cornelia de Lange syndrome

true

324

MONDO:0016033

253

null

[ "HP:0000248", "HP:0000252", "HP:0000358", "HP:0000527", "HP:0000664", "HP:0000998", "HP:0001344", "HP:0001773", "HP:0001831", "HP:0002002", "HP:0002553", "HP:0002986", "HP:0004209", "HP:0004220", "HP:0004279", "HP:0007598", "HP:0008551", "HP:0009173", "HP:0009381", "HP:0009623"...

HP:0000340;HP:0002814;HP:0002996;HP:0002997;HP:0003974;HP:0003982

European

null

1

2

null

female

true

122,470

Cornelia de Lange syndrome

true

325

MONDO:0016033

254

null

[ "HP:0000028", "HP:0000054", "HP:0000248", "HP:0000252", "HP:0000358", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000954", "HP:0001773", "HP:0001831", "HP:0002002", "HP:0002553", "HP:0002986", "HP:0002997", "HP:0003974", "HP:0003982", "HP:0004209", "HP:0004279", "HP:0009173"...

HP:0000340;HP:0002814;HP:0002996;HP:0008551

Others

American - Latin/Hispanic

1

0

null

male

true

122,470

Cornelia de Lange syndrome

true

326

MONDO:0016033

255

null

[ "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000358", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0001773", "HP:0001831", "HP:0002553", "HP:0004209", "HP:0004220", "HP:0004279", "HP:0009173", "HP:0009381", "HP:0009623", "HP:0009778", "HP:0010034", "HP:0010047", "HP:0011220"...

HP:0000340;HP:0000954;HP:0002996;HP:0002997;HP:0003974;HP:0003982;HP:0008551

European

null

0

11

null

female

true

122,470

Cornelia de Lange syndrome

true

327

MONDO:0016033

256

null

[ "HP:0000028", "HP:0000054", "HP:0000248", "HP:0000252", "HP:0000358", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0001773", "HP:0001831", "HP:0002002", "HP:0002553", "HP:0004209", "HP:0004279", "HP:0005272", "HP:0009381", "HP:0009623", "HP:0009778", "HP:0010034", "HP:0011220"...

HP:0000340;HP:0000954;HP:0002814;HP:0002996;HP:0002997;HP:0003974;HP:0003982;HP:0008551;HP:0010029

European

null

1

null

male

true

122,470

Cornelia de Lange syndrome

true

329

MONDO:0016033

258

null

[ "HP:0000316", "HP:0000343", "HP:0000358", "HP:0000451", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001256", "HP:0001263", "HP:0001510", "HP:0002230", "HP:0004209", "HP:0004322", "HP:0006394", "HP:0007598", "HP:0008551", "HP:0009237"...

null

European

null

13

0

null

male

true

122,470

Cornelia de Lange syndrome

true

330

MONDO:0016033

258

null

[ "HP:0000316", "HP:0000343", "HP:0000358", "HP:0000451", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001256", "HP:0001263", "HP:0001510", "HP:0002230", "HP:0004209", "HP:0004322", "HP:0006394", "HP:0007598", "HP:0008551", "HP:0009237"...

null

European

null

13

0

null

male

true

122,470

Cornelia de Lange syndrome

true

341

MONDO:0008678

260

null

[ "HP:0000369", "HP:0000486", "HP:0000664", "HP:0000737", "HP:0001233", "HP:0001252", "HP:0001263", "HP:0001943", "HP:0002230", "HP:0002572", "HP:0004279", "HP:0009381", "HP:0009803", "HP:0010487", "HP:0010804", "HP:0011968", "HP:0100543", "HP:0100853" ]

null

European

null

10

6

null

male

true

194,050

Williams syndrome

true

345

MONDO:0016033

262

null

[ "HP:0000252", "HP:0000508", "HP:0000545", "HP:0000613", "HP:0000639", "HP:0000664", "HP:0001156", "HP:0001256", "HP:0006216", "HP:0009536", "HP:0009889", "HP:0011917", "HP:0030084" ]

HP:0000119;HP:0000175;HP:0000218;HP:0000368;HP:0000965;HP:0001510;HP:0001627;HP:0001773;HP:0002996;HP:0004279;HP:0004691;HP:0007598;HP:0010300

European

null

8

0

null

male

true

122,470

Cornelia de Lange syndrome

true

346

MONDO:0016033

263

null

[ "HP:0000252", "HP:0000278", "HP:0000664", "HP:0000954", "HP:0001156", "HP:0001256", "HP:0001510", "HP:0001518", "HP:0001773", "HP:0004209", "HP:0004279", "HP:0004322", "HP:0006216", "HP:0009237", "HP:0011800", "HP:0030084" ]

HP:0000119;HP:0000175;HP:0000218;HP:0000368;HP:0000486;HP:0000639;HP:0000965;HP:0001007;HP:0001627;HP:0002996;HP:0004691;HP:0010300

European

null

12

0

null

male

true

122,470

Cornelia de Lange syndrome

true

349

MONDO:0016033

266

null

[ "HP:0000164", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000965", "HP:0001007", "HP:0001249", "HP:0001773", "HP:0002557", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0008897"...

HP:0000316;HP:0000369;HP:0000811;HP:0001511;HP:0002705;HP:0002996;HP:0003011;HP:0003196;HP:0005280;HP:0040064

European

null

3

null

male

true

122,470

Cornelia de Lange syndrome

true

351

MONDO:0016033

268

null

[ "HP:0000164", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001007", "HP:0001249", "HP:0002705", "HP:0008897", "HP:0025356" ]

HP:0000316;HP:0000319;HP:0000369;HP:0000574;HP:0000811;HP:0001511;HP:0001773;HP:0002557;HP:0002714;HP:0002996;HP:0003011;HP:0003196;HP:0004279;HP:0005280;HP:0009623

European

null

7

9

null

female

true

122,470

Cornelia de Lange syndrome

true

352

MONDO:0016033

269

null

[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001249", "HP:0001773", "HP:0002557", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0009623", "HP:0025356", "HP:0025429" ]

HP:0000164;HP:0000316;HP:0000347;HP:0000369;HP:0000574;HP:0000811;HP:0001007;HP:0001511;HP:0002705;HP:0002996;HP:0003011;HP:0003196;HP:0005280;HP:0008897;HP:0040064

European

null

10

2

null

female

true

122,470

Cornelia de Lange syndrome

true

353

MONDO:0016033

270

null

[ "HP:0000164", "HP:0000233", "HP:0000252", "HP:0000316", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000965", "HP:0001007", "HP:0001249", "HP:0001511", "HP:0001773", "HP:0002714", "HP:0003196", "HP:0004209", "HP:0004279", "HP:0005280", "HP:0008897"...

HP:0000294;HP:0000319;HP:0000369;HP:0000811;HP:0002557;HP:0002705;HP:0002996;HP:0003011;HP:0025429;HP:0040064

European

null

4

3

null

male

true

122,470

Cornelia de Lange syndrome

true

354

MONDO:0016033

271

NIPBL

[ "HP:0000233", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0002553", "HP:0005280" ]

null

European

null

-

female

true

122,470

Cornelia de Lange syndrome

true

355

MONDO:0016033

272

NIPBL

[ "HP:0000218", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000341", "HP:0000343", "HP:0000347", "HP:0000365", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000545", "HP:0000664", "HP:0000687", "HP:0000691", "HP:0000965", "HP:0001249", "HP:0001250", "HP:0001344"...

HP:0000119;HP:0001627

Others

American - Latin/Hispanic

4

0

-

female

true

122,470

Cornelia de Lange syndrome

true

356

MONDO:0016033

273

NIPBL

[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000965", "HP:0001249", "HP:0001270", "HP:0001508", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0004322", "HP:0004325", "HP:0005280"...

HP:0000119;HP:0000175;HP:0000218;HP:0000365;HP:0000508;HP:0000545;HP:0000687;HP:0000691;HP:0001007;HP:0001627;HP:0007678

Others

null

-

male

true

122,470

Cornelia de Lange syndrome

true

359

MONDO:0016033

276

NIPBL

[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000365", "HP:0000369", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000729", "HP:0000750", "HP:0000965", "HP:0001270", "HP:0001773", "HP:0002099", "HP:0002714", "HP:0004209", "HP:0004279"...

HP:0000119;HP:0000175;HP:0000218;HP:0000508;HP:0000687;HP:0000691;HP:0001627;HP:0002020;HP:0002553;HP:0008872

Others

null

-

male

true

122,470

Cornelia de Lange syndrome

true