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
360	MONDO:0016033	277	NIPBL	[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000965", "HP:0001007", "HP:0001250", "HP:0001270", "HP:0001773", "HP:0002553", "HP:0002714", "HP:0002996", "HP:0005280"...	null	Others	Others	0	0	-	male	true	122,470	Cornelia de Lange syndrome	true
361	MONDO:0016033	278	NIPBL	[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000463", "HP:0000527", "HP:0000666", "HP:0000750", "HP:0001007", "HP:0001822", "HP:0002553", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0005280", "HP:0008872", "HP:0009623", "HP:0010544" ]	HP:0000175;HP:0000218;HP:0000347;HP:0000365;HP:0000508;HP:0000545;HP:0000664;HP:0000687;HP:0000691;HP:0000954;HP:0000965;HP:0001627;HP:0002996	Others	Others	null	null	-	male	true	122,470	Cornelia de Lange syndrome	true
362	MONDO:0016033	279	NIPBL	[ "HP:0000218", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000369", "HP:0000527", "HP:0000664", "HP:0000752", "HP:0001007", "HP:0001263", "HP:0001377", "HP:0001518", "HP:0001773", "HP:0002572", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0004322", "HP:0004325"...	HP:0000083;HP:0001410	Asian	South-East Asian	null	null	(child)	male	true	122,470	Cornelia de Lange syndrome	true
364	MONDO:0016033	281	NIPBL	[ "HP:0000219", "HP:0000252", "HP:0000343", "HP:0000664", "HP:0000954", "HP:0001263", "HP:0001270", "HP:0001773", "HP:0002553", "HP:0002714", "HP:0003196", "HP:0004209", "HP:0004279", "HP:0004322", "HP:0004325", "HP:0008897", "HP:0011120" ]	null	Asian	South-East Asian	null	null	(child)	male	true	122,470	Cornelia de Lange syndrome	true
365	MONDO:0016033	282	NIPBL	[ "HP:0000175", "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000347", "HP:0000407", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000954", "HP:0000961", "HP:0000998", "HP:0001276", "HP:0001508", "HP:0002572", "HP:0002643", "HP:0002714", "HP:0002983"...	null	Asian	Asian Others	null	null	infant	female	true	122,470	Cornelia de Lange syndrome	true
366	MONDO:0016033	282	NIPBL	[ "HP:0000175", "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000347", "HP:0000407", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000954", "HP:0000961", "HP:0000998", "HP:0001276", "HP:0001508", "HP:0002572", "HP:0002643", "HP:0002714", "HP:0002983"...	null	Asian	Asian Others	1	0	null	female	true	122,470	Cornelia de Lange syndrome	true
367	MONDO:0016033	282	NIPBL	[ "HP:0000175", "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000347", "HP:0000407", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000954", "HP:0000961", "HP:0000998", "HP:0001276", "HP:0001508", "HP:0002572", "HP:0002643", "HP:0002714", "HP:0002983"...	null	Asian	Asian Others	2	6	null	female	true	122,470	Cornelia de Lange syndrome	true
368	MONDO:0016033	283	NIPBL	[ "HP:0000175", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000369", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001007", "HP:0001167", "HP:0005280", "HP:0008897", "HP:0010864" ]	null	Asian	East Asian	7	0	null	male	true	122,470	Cornelia de Lange syndrome	true
370	MONDO:0016033	285	NIPBL	[ "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000369", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001007", "HP:0001167", "HP:0005280", "HP:0010864" ]	HP:0000175	Asian	East Asian	2	0	null	female	true	122,470	Cornelia de Lange syndrome	true
371	MONDO:0016033	286	null	[ "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0001007", "HP:0001167", "HP:0005280", "HP:0008897", "HP:0010864" ]	HP:0000175;HP:0000369;HP:0000954	Asian	East Asian	7	0	null	male	true	122,470	Cornelia de Lange syndrome	true
372	MONDO:0016033	287	null	[ "HP:0000175", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000369", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001007", "HP:0005280", "HP:0008897", "HP:0010864" ]	HP:0001167	Asian	East Asian	0	2	null	female	true	122,470	Cornelia de Lange syndrome	true
373	MONDO:0016033	288	NIPBL	[ "HP:0000219", "HP:0000294", "HP:0000343", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001270", "HP:0002002", "HP:0002020", "HP:0002553", "HP:0002714", "HP:0003196", "HP:0004325", "HP:0004691", "HP:0011968" ]	HP:0002817	European	null	3	4	null	female	true	122,470	Cornelia de Lange syndrome	true
374	MONDO:0016033	288	NIPBL	[ "HP:0000219", "HP:0000294", "HP:0000343", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001270", "HP:0002002", "HP:0002020", "HP:0002553", "HP:0002714", "HP:0003196", "HP:0004325", "HP:0004691", "HP:0011968" ]	HP:0002817	European	null	3	4	null	female	true	122,470	Cornelia de Lange syndrome	true
375	MONDO:0016033	289	NIPBL	[ "HP:0000219", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0001263", "HP:0001328", "HP:0001510", "HP:0001682", "HP:0002020", "HP:0002553", "HP:0003189", "HP:0004322", "HP:0004325", "HP:0008872" ]	null	European	null	null	null	(child	male	true	122,470	Cornelia de Lange syndrome	true
376	MONDO:0016033	289	NIPBL	[ "HP:0000219", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0001263", "HP:0001328", "HP:0001510", "HP:0001682", "HP:0002020", "HP:0002553", "HP:0003189", "HP:0004322", "HP:0004325", "HP:0008872" ]	null	European	null	null	null	adult)	male	true	122,470	Cornelia de Lange syndrome	true
379	MONDO:0016033	291	NIPBL	[ "HP:0000218", "HP:0000233", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001180", "HP:0001249", "HP:0001263", "HP:0001510", "HP:0001631", "HP:0002002", "HP:0002015", "HP:0002162", "HP:0002230", "HP:0002465"...	null	African	Sub-Saharan	0	3	null	male	true	122,470	Cornelia de Lange syndrome	true
380	MONDO:0016033	292	NIPBL	[ "HP:0000047", "HP:0000049", "HP:0000054", "HP:0000219", "HP:0000252", "HP:0000316", "HP:0000343", "HP:0000527", "HP:0000750", "HP:0001249", "HP:0001263", "HP:0002015", "HP:0002553", "HP:0003502", "HP:0004279", "HP:0005280", "HP:0007598", "HP:0008897", "HP:0010034", "HP:0011968"...	HP:0000708;HP:0000965;HP:0001007;HP:0002020	European	null	3	5	null	male	true	122,470	Cornelia de Lange syndrome	true
381	MONDO:0016033	292	NIPBL	[ "HP:0000047", "HP:0000049", "HP:0000054", "HP:0000219", "HP:0000252", "HP:0000316", "HP:0000343", "HP:0000527", "HP:0000750", "HP:0001249", "HP:0001263", "HP:0002015", "HP:0002553", "HP:0003502", "HP:0004279", "HP:0005280", "HP:0007598", "HP:0008897", "HP:0010034", "HP:0011968"...	HP:0000708;HP:0000965;HP:0001007;HP:0002020	European	null	8	0	null	male	true	122,470	Cornelia de Lange syndrome	true
382	MONDO:0016033	293	NIPBL	[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000463", "HP:0000465", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0000708", "HP:0000965", "HP:0001249", "HP:0001263", "HP:0001344", "HP:0001511", "HP:0002015", "HP:0002020", "HP:0002162"...	null	European	null	0	0	infant	female	true	122,470	Cornelia de Lange syndrome	true
383	MONDO:0016033	294	null	[ "HP:0000664", "HP:0012759" ]	null	European	null	null	null	-	female	true	122,470	Cornelia de Lange syndrome	true
384	MONDO:0016033	295	null	[ "HP:0000664", "HP:0005632", "HP:0012759" ]	null	European	null	null	null	-	male	true	122,470	Cornelia de Lange syndrome	true
385	MONDO:0016033	296	null	[ "HP:0000664", "HP:0005632", "HP:0012759" ]	null	European	null	null	null	-	female	true	122,470	Cornelia de Lange syndrome	true
388	MONDO:0016033	299	null	[ "HP:0000664", "HP:0012759" ]	null	European	null	null	null	-	male	true	122,470	Cornelia de Lange syndrome	true
392	MONDO:0016033	303	null	[ "HP:0000664", "HP:0012759" ]	null	European	null	null	null	-	male	true	122,470	Cornelia de Lange syndrome	true
395	MONDO:0016033	306	null	[ "HP:0000664", "HP:0012759" ]	null	European	null	null	null	-	female	true	122,470	Cornelia de Lange syndrome	true
397	MONDO:0016033	308	null	[ "HP:0000664", "HP:0012759" ]	null	European	null	null	null	-	male	true	122,470	Cornelia de Lange syndrome	true
398	MONDO:0016033	309	null	[ "HP:0000664", "HP:0012759" ]	null	European	null	null	null	-	female	true	122,470	Cornelia de Lange syndrome	true
400	MONDO:0016033	311	null	[ "HP:0000664", "HP:0012759" ]	null	European	null	null	null	-	male	true	122,470	Cornelia de Lange syndrome	true
401	MONDO:0004933	312	KMT2D	[ "HP:0000637", "HP:0001510", "HP:0004325", "HP:0007655", "HP:0011968" ]	null	European	null	3	6	(child)	male	false	241,550	hypoplastic left heart syndrome	true
403	MONDO:0016512	314	KMT2D	[ "HP:0000924", "HP:0001212", "HP:0001249", "HP:0002079", "HP:0007359", "HP:0008897", "HP:0011146" ]	null	European	null	11	2	null	male	true	147,920	Kabuki syndrome	true
404	MONDO:0016512	315	KMT2D	[ "HP:0000924", "HP:0001212", "HP:0001249", "HP:0008897", "HP:0010627", "HP:0010850" ]	null	European	null	12	4	null	female	true	147,920	Kabuki syndrome	true
405	MONDO:0016512	316	KMT2D	[ "HP:0000085", "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001629", "HP:0002023", "HP:0002353", "HP:0002553", "HP:0004942", "HP:0005338", "HP:0005580", "HP:0007477", "HP:0007655", "HP:0007703", "HP:0008807"...	null	Asian	East Asian	6	0	null	female	true	147,920	Kabuki syndrome	true
408	MONDO:0016512	319	KMT2D	[ "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000891", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001620", "HP:0001680", "HP:0002198", "HP:0002553", "HP:0002673", "HP:0002750", "HP:0005338", "HP:0006668", "HP:0007655", "HP:0008897", "HP:0010314"...	null	Asian	East Asian	4	0	null	female	true	147,920	Kabuki syndrome	true
409	MONDO:0016512	320	KMT2D	[ "HP:0000028", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000824", "HP:0000924", "HP:0001156", "HP:0001250", "HP:0001256", "HP:0001622", "HP:0001792", "HP:0001998", "HP:0002414", "HP:0002553", "HP:0002750", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0010674"...	null	Asian	East Asian	5	0	null	male	true	147,920	Kabuki syndrome	true
411	MONDO:0016512	322	KMT2D	[ "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0001256", "HP:0001530", "HP:0001629", "HP:0001762", "HP:0002553", "HP:0005338", "HP:0007655" ]	null	Asian	East Asian	1	0	null	female	true	147,920	Kabuki syndrome	true
412	MONDO:0016512	323	KMT2D	[ "HP:0000028", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000775", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001250", "HP:0001537", "HP:0001763", "HP:0002553", "HP:0003316", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0010674" ]	null	Asian	East Asian	2	0	null	male	true	147,920	Kabuki syndrome	true
414	MONDO:0016512	325	KMT2D	[ "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000482", "HP:0000637", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001537", "HP:0002553", "HP:0003316", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0010674", "HP:0011588" ]	null	Asian	East Asian	11	0	null	male	true	147,920	Kabuki syndrome	true
415	MONDO:0016512	326	KMT2D	[ "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0002553", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0010674" ]	null	Asian	East Asian	5	0	null	male	true	147,920	Kabuki syndrome	true
416	MONDO:0016512	327	KMT2D	[ "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000891", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001252", "HP:0001537", "HP:0001622", "HP:0001636", "HP:0002553", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0009623", "HP:0010314"...	null	Asian	East Asian	0	6	null	female	true	147,920	Kabuki syndrome	true
417	MONDO:0016512	328	KMT2D	[]	null	European	null	0	6	null	male	true	147,920	Kabuki syndrome	false
418	MONDO:0016512	328	KMT2D	[]	null	European	null	12	0	null	male	true	147,920	Kabuki syndrome	false
419	MONDO:0016512	329	KMT2D	[]	null	European	null	0	1	null	male	true	147,920	Kabuki syndrome	false
420	MONDO:0016512	329	KMT2D	[]	null	European	null	18	0	null	male	true	147,920	Kabuki syndrome	false
423	MONDO:0016512	331	KMT2D	[]	null	European	null	0	1	null	male	true	147,920	Kabuki syndrome	false
424	MONDO:0016512	331	KMT2D	[]	null	European	null	11	0	null	male	true	147,920	Kabuki syndrome	false
425	MONDO:0016512	332	KMT2D	[]	null	European	null	9	0	null	male	true	147,920	Kabuki syndrome	false
426	MONDO:0016512	333	KMT2D	[]	null	European	null	2	0	null	male	true	147,920	Kabuki syndrome	false
427	MONDO:0016512	334	KMT2D	[]	null	Asian	Middle-East/West Asian	3	0	null	male	true	147,920	Kabuki syndrome	false
428	MONDO:0016512	335	KMT2D	[]	null	European	null	null	null	-	male	true	147,920	Kabuki syndrome	false
429	MONDO:0016512	336	KMT2D	[]	null	European	null	null	null	-	male	true	147,920	Kabuki syndrome	false
432	MONDO:0016512	339	KMT2D	[]	null	European	null	2	0	null	female	true	147,920	Kabuki syndrome	false
433	MONDO:0016512	340	KMT2D	[]	null	European	null	9	0	null	female	true	147,920	Kabuki syndrome	false
434	MONDO:0016512	341	KMT2D	[]	null	European	null	17	0	null	female	true	147,920	Kabuki syndrome	false
436	MONDO:0016512	343	KMT2D	[]	null	European	null	6	0	null	female	true	147,920	Kabuki syndrome	false
437	MONDO:0016596	345	PIGV, SLC9A1	[ "HP:0000219", "HP:0000316", "HP:0000358", "HP:0000431", "HP:0000455", "HP:0000582", "HP:0000637", "HP:0001156", "HP:0001249", "HP:0001252", "HP:0001344", "HP:0001792", "HP:0002019", "HP:0002251", "HP:0002714", "HP:0003155", "HP:0003196", "HP:0004209", "HP:0009882", "HP:0011344"...	HP:0000175;HP:0000256;HP:0000286;HP:0000378;HP:0001216;HP:0001250;HP:0001545;HP:0002023;HP:0008504;HP:0410030	European	null	4	2	null	female	true	239,300	hyperphosphatasia-intellectual disability syndrome	true
438	MONDO:0014310	346	FAM111B	[ "HP:0000535", "HP:0000653", "HP:0000992", "HP:0001029", "HP:0002209", "HP:0005750", "HP:0007340", "HP:0008070", "HP:0025493", "HP:0030878", "HP:0045075" ]	HP:0000518;HP:0000964;HP:0001004;HP:0001249;HP:0001510;HP:0002015;HP:0002046;HP:0002164;HP:0002240;HP:0002522;HP:0002570;HP:0002650;HP:0003202;HP:0008064;HP:0011355;HP:0025293;HP:0025526;HP:0100360;HP:0100658;HP:0100899	European	null	8	0	null	male	false	615,704	hereditary sclerosing poikiloderma with tendon and pulmonary involvement	true
447	MONDO:0016596	357	PGAP3	[ "HP:0000154", "HP:0000256", "HP:0000293", "HP:0000637", "HP:0000657", "HP:0000691", "HP:0000717", "HP:0000750", "HP:0001249", "HP:0001251", "HP:0001263", "HP:0001270", "HP:0001344", "HP:0001382", "HP:0003155", "HP:0008551", "HP:0010804", "HP:0031936" ]	null	European	null	18	0	null	female	true	239,300	hyperphosphatasia-intellectual disability syndrome	true
449	MONDO:0016596	354	PGAP3	[ "HP:0000154", "HP:0000256", "HP:0000280", "HP:0000293", "HP:0000322", "HP:0000637", "HP:0000657", "HP:0001250", "HP:0001251", "HP:0001263", "HP:0001270", "HP:0001315", "HP:0001344", "HP:0001382", "HP:0003155", "HP:0006962", "HP:0010804", "HP:0031936" ]	null	European	null	18	0	null	male	true	239,300	hyperphosphatasia-intellectual disability syndrome	true
450	MONDO:0015452	358	BICRA	[ "HP:0000028", "HP:0000047", "HP:0000218", "HP:0000219", "HP:0000270", "HP:0000288", "HP:0000331", "HP:0000341", "HP:0000347", "HP:0000426", "HP:0000430", "HP:0000463", "HP:0000486", "HP:0000490", "HP:0000527", "HP:0000574", "HP:0000582", "HP:0000664", "HP:0000735", "HP:0001263"...	HP:0000160;HP:0000220;HP:0000252;HP:0000256;HP:0000268;HP:0000286;HP:0000293;HP:0000294;HP:0000307;HP:0000316;HP:0000322;HP:0000343;HP:0000368;HP:0000395;HP:0000411;HP:0000414;HP:0000494;HP:0000601;HP:0000767;HP:0001238;HP:0002007;HP:0002057;HP:0002209;HP:0002553;HP:0003186;HP:0005280;HP:0005487;HP:0009748;HP:0009890;H...	Unknown	null	8	0	null	male	true	135,900	Coffin-Siris syndrome	true
451	MONDO:0010497	359	DDX3X	[ "HP:0000337", "HP:0000505", "HP:0001252", "HP:0001388", "HP:0002079", "HP:0010864", "HP:0100022" ]	null	European	null	4	0	null	female	true	300,958	intellectual disability, X-linked 102	true
454	MONDO:0859159	362	PSMC3	[ "HP:0000219", "HP:0000272", "HP:0000322", "HP:0000336", "HP:0000486", "HP:0000519", "HP:0000664", "HP:0000729", "HP:0001271", "HP:0001344", "HP:0007618", "HP:0008527", "HP:0009887", "HP:0009938", "HP:0010864", "HP:0011344", "HP:0100830" ]	null	Asian	Middle-East/West Asian	8	0	null	male	true	619,354	deafness, cataract, impaired intellectual development, and polyneuropathy	true
455	MONDO:0859159	362	PSMC3	[ "HP:0000219", "HP:0000272", "HP:0000322", "HP:0000336", "HP:0000486", "HP:0000519", "HP:0000664", "HP:0000729", "HP:0001271", "HP:0001344", "HP:0007618", "HP:0008527", "HP:0009887", "HP:0009938", "HP:0010864", "HP:0011344", "HP:0100830" ]	null	Asian	Middle-East/West Asian	16	0	null	male	true	619,354	deafness, cataract, impaired intellectual development, and polyneuropathy	true
457	MONDO:0859159	363	PSMC3	[ "HP:0000219", "HP:0000272", "HP:0000322", "HP:0000336", "HP:0000519", "HP:0001271", "HP:0007618", "HP:0008527", "HP:0009887", "HP:0009938", "HP:0011343" ]	HP:0000486;HP:0000664;HP:0000729;HP:0100830	Asian	Middle-East/West Asian	6	0	null	male	true	619,354	deafness, cataract, impaired intellectual development, and polyneuropathy	true
458	MONDO:0859159	363	PSMC3	[ "HP:0000219", "HP:0000272", "HP:0000322", "HP:0000336", "HP:0000519", "HP:0001271", "HP:0007618", "HP:0008527", "HP:0009887", "HP:0009938", "HP:0011343" ]	HP:0000486;HP:0000664;HP:0000729;HP:0100830	Asian	Middle-East/West Asian	14	0	null	male	true	619,354	deafness, cataract, impaired intellectual development, and polyneuropathy	true
461	MONDO:0001029	365	MYO18B	[ "HP:0000175", "HP:0000219", "HP:0000252", "HP:0000343", "HP:0000347", "HP:0000348", "HP:0000369", "HP:0000414", "HP:0000494", "HP:0000508", "HP:0001270", "HP:0001290", "HP:0001508", "HP:0001653", "HP:0001655", "HP:0001713", "HP:0002162", "HP:0002230", "HP:0002837", "HP:0002944"...	null	Asian	Middle-East/West Asian	0	5	null	male	false	118,100	Klippel-Feil syndrome	true
462	MONDO:0014699	366	CHAMP1	[ "HP:0000164", "HP:0000194", "HP:0000218", "HP:0000219", "HP:0000232", "HP:0000252", "HP:0000276", "HP:0000307", "HP:0000322", "HP:0000463", "HP:0000486", "HP:0000540", "HP:0000733", "HP:0000750", "HP:0001252", "HP:0001270", "HP:0001382", "HP:0001537", "HP:0001824", "HP:0002013"...	HP:0000286;HP:0000369;HP:0000582;HP:0002719	European	null	0	0	null	male	true	616,579	intellectual disability, autosomal dominant 40	true
464	MONDO:0020836	368	CHAMP1	[ "HP:0000194", "HP:0000219", "HP:0000232", "HP:0000252", "HP:0000276", "HP:0000307", "HP:0000322", "HP:0000369", "HP:0000486", "HP:0000577", "HP:0000582", "HP:0000750", "HP:0001252", "HP:0001263", "HP:0001270", "HP:0001350", "HP:0001382", "HP:0001508", "HP:0002015", "HP:0002045"...	HP:0000286;HP:0001537	European	null	0	0	null	male	true	209,850	autism, susceptiblity to	true
465	MONDO:0014699	369	CHAMP1	[ "HP:0000179", "HP:0000194", "HP:0000218", "HP:0000219", "HP:0000252", "HP:0000286", "HP:0000297", "HP:0000322", "HP:0000389", "HP:0000431", "HP:0000470", "HP:0000474", "HP:0000483", "HP:0000574", "HP:0000582", "HP:0000691", "HP:0000699", "HP:0000733", "HP:0000750", "HP:0001260"...	HP:0000276;HP:0000307;HP:0000369;HP:0000486;HP:0001382;HP:0001537	European	null	0	0	null	female	true	616,579	intellectual disability, autosomal dominant 40	true
468	MONDO:0060763	372	BCL11B, CAMSAP1	[ "HP:0000164", "HP:0000219", "HP:0000276", "HP:0000343", "HP:0000448", "HP:0000668", "HP:0000682", "HP:0001182", "HP:0001249", "HP:0001260", "HP:0001263", "HP:0001270", "HP:0002028", "HP:0002167", "HP:0002719", "HP:0009765", "HP:0010282", "HP:0045025", "HP:0045074", "HP:0100874"...	HP:0000316;HP:0000539;HP:0000729;HP:0002058;HP:0002099;HP:0011968;HP:0012393	European	null	8	11	null	male	true	618,092	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	true
469	MONDO:0060763	373	BCL11B	[ "HP:0000160", "HP:0000219", "HP:0000278", "HP:0000316", "HP:0000337", "HP:0000343", "HP:0000402", "HP:0000448", "HP:0000540", "HP:0000729", "HP:0000750", "HP:0001249", "HP:0001270", "HP:0001276", "HP:0002015", "HP:0002020", "HP:0002058", "HP:0002099", "HP:0002167", "HP:0002179"...	HP:0000164	European	null	1	8	null	male	true	618,092	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	true
471	MONDO:0060763	375	BCL11B	[ "HP:0000160", "HP:0000164", "HP:0000219", "HP:0000276", "HP:0000316", "HP:0000322", "HP:0000347", "HP:0000358", "HP:0000448", "HP:0000463", "HP:0000582", "HP:0001249", "HP:0001252", "HP:0001270", "HP:0001760", "HP:0001770", "HP:0002020", "HP:0002021", "HP:0002058", "HP:0002099"...	HP:0000343;HP:0000539;HP:0000729;HP:0045074	European	null	2	3	null	male	true	618,092	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	true
472	MONDO:0060763	376	BCL11B, NYAP1	[ "HP:0000164", "HP:0000219", "HP:0000276", "HP:0000307", "HP:0000448", "HP:0000455", "HP:0000545", "HP:0000582", "HP:0000691", "HP:0002099", "HP:0002167", "HP:0002342", "HP:0002719", "HP:0003074", "HP:0004322", "HP:0004904", "HP:0011950", "HP:0012393", "HP:0025268" ]	HP:0000316;HP:0000343;HP:0000729;HP:0001270;HP:0002058;HP:0011968;HP:0045025;HP:0045074	Others	American - Latin/Hispanic	7	0	null	male	true	618,092	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	true
474	MONDO:0060763	378	BCL11B	[ "HP:0000286", "HP:0000343", "HP:0000431", "HP:0000545", "HP:0000750", "HP:0000954", "HP:0001249", "HP:0001257", "HP:0001270", "HP:0002058", "HP:0002099", "HP:0002119", "HP:0002167", "HP:0002273", "HP:0002453", "HP:0002835", "HP:0011968", "HP:0012393", "HP:0045025" ]	HP:0000164;HP:0000219;HP:0000316;HP:0000448;HP:0000729;HP:0002719;HP:0045074	European	null	6	2	null	female	true	618,092	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	true
475	MONDO:0001029	379	MYO18B	[ "HP:0000218", "HP:0000252", "HP:0000293", "HP:0000369", "HP:0000414", "HP:0000494", "HP:0000508", "HP:0000750", "HP:0000938", "HP:0001324", "HP:0001511", "HP:0001943", "HP:0002194", "HP:0004322", "HP:0008872" ]	HP:0000308;HP:0001627;HP:0002162	Asian	Middle-East/West Asian	0	0	null	male	false	118,100	Klippel-Feil syndrome	true
477	MONDO:0001029	380	MYO18B	[ "HP:0000278", "HP:0000369", "HP:0000414", "HP:0000494", "HP:0000508", "HP:0000577", "HP:0000767", "HP:0000822", "HP:0000914", "HP:0000954", "HP:0001324", "HP:0001638", "HP:0001712", "HP:0001761", "HP:0001762", "HP:0002162", "HP:0002949", "HP:0004322", "HP:0006109", "HP:0030084"...	HP:0000218;HP:0012664	Others	American - Native	51	0	null	male	false	118,100	Klippel-Feil syndrome	true
479	MONDO:0001029	381	MYO18B	[ "HP:0000218", "HP:0000238", "HP:0000347", "HP:0000592", "HP:0001251", "HP:0001252", "HP:0001263", "HP:0001385", "HP:0001623", "HP:0002572", "HP:0002650", "HP:0002885", "HP:0004279", "HP:0004602", "HP:0007598", "HP:0008872" ]	null	European	null	0	0	null	male	false	118,100	Klippel-Feil syndrome	true
481	MONDO:0001029	383	MYO18B	[ "HP:0000218", "HP:0000219", "HP:0000341", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000414", "HP:0000465", "HP:0000470", "HP:0001007", "HP:0001324", "HP:0001488", "HP:0001511", "HP:0001621", "HP:0002162", "HP:0002275", "HP:0002901", "HP:0002949", "HP:0004322", "HP:0004325"...	null	Asian	Middle-East/West Asian	0	0	null	female	false	118,100	Klippel-Feil syndrome	true
483	MONDO:0008434	384	POGZ, RAI1	[ "HP:0000233", "HP:0000248", "HP:0000252", "HP:0000272", "HP:0000303", "HP:0000307", "HP:0000322", "HP:0000437", "HP:0000455", "HP:0000470", "HP:0000545", "HP:0000718", "HP:0001263", "HP:0001290", "HP:0001388", "HP:0001513", "HP:0002136", "HP:0002360", "HP:0002515", "HP:0002714"...	HP:0000347;HP:0000365;HP:0000609;HP:0001156;HP:0001250	European	null	5	0	null	female	true	182,290	Smith-Magenis syndrome	true
485	MONDO:0014606	386	POGZ	[ "HP:0000193", "HP:0000233", "HP:0000272", "HP:0000322", "HP:0000455", "HP:0000483", "HP:0000486", "HP:0000540", "HP:0000708", "HP:0001156", "HP:0001172", "HP:0001252", "HP:0001263", "HP:0001508", "HP:0001566", "HP:0001631", "HP:0001769", "HP:0001780", "HP:0002033", "HP:0002384"...	HP:0000248;HP:0000252;HP:0000303;HP:0000307;HP:0000347;HP:0000470;HP:0000609;HP:0001388;HP:0004322;HP:0005280;HP:0010535;HP:0011800	European	null	0	5	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
486	MONDO:0014606	386	POGZ	[ "HP:0000193", "HP:0000233", "HP:0000272", "HP:0000322", "HP:0000455", "HP:0000483", "HP:0000486", "HP:0000540", "HP:0000708", "HP:0001156", "HP:0001172", "HP:0001252", "HP:0001263", "HP:0001508", "HP:0001566", "HP:0001631", "HP:0001769", "HP:0001780", "HP:0002033", "HP:0002384"...	HP:0000248;HP:0000252;HP:0000303;HP:0000307;HP:0000347;HP:0000470;HP:0000609;HP:0001388;HP:0004322;HP:0005280;HP:0010535;HP:0011800	European	null	4	0	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
488	MONDO:0014606	387	POGZ	[ "HP:0000218", "HP:0000248", "HP:0000252", "HP:0000272", "HP:0000303", "HP:0000307", "HP:0000322", "HP:0000337", "HP:0000340", "HP:0000358", "HP:0000407", "HP:0000437", "HP:0000455", "HP:0000486", "HP:0000510", "HP:0000577", "HP:0000582", "HP:0000609", "HP:0000750", "HP:0001252"...	HP:0000233;HP:0000347;HP:0000470;HP:0001156;HP:0001250;HP:0001252;HP:0001388;HP:0005280	European	null	2	0	null	female	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
491	MONDO:0014606	389	POGZ	[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000609", "HP:0000711", "HP:0000729", "HP:0000733", "HP:0000750", "HP:0000817", "HP:0001270", "HP:0002007", "HP:0002360", "HP:0002566", "HP:0002719", "HP:0010864", "HP:0011344", "HP:0011800", "HP:0030724" ]	HP:0000505	Unknown	null	1	0	null	female	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
492	MONDO:0014606	389	POGZ	[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000609", "HP:0000711", "HP:0000729", "HP:0000733", "HP:0000750", "HP:0000817", "HP:0001270", "HP:0002007", "HP:0002360", "HP:0002566", "HP:0002719", "HP:0010864", "HP:0011344", "HP:0011800", "HP:0030724" ]	HP:0000505	Unknown	null	3	0	null	female	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
493	MONDO:0014606	390	POGZ	[ "HP:0000023", "HP:0000110", "HP:0000126", "HP:0000219", "HP:0000248", "HP:0000303", "HP:0000324", "HP:0000460", "HP:0000463", "HP:0000483", "HP:0000508", "HP:0000540", "HP:0000582", "HP:0000729", "HP:0000750", "HP:0002057", "HP:0002719", "HP:0006837", "HP:0008872", "HP:0010806"...	HP:0001513	Unknown	null	9	0	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
498	MONDO:0014606	393	POGZ	[ "HP:0000028", "HP:0000316", "HP:0000348", "HP:0000396", "HP:0000508", "HP:0000540", "HP:0000729", "HP:0000750", "HP:0001182", "HP:0001256", "HP:0001270", "HP:0001388", "HP:0007010", "HP:0007018", "HP:0007874", "HP:0025502", "HP:0100025" ]	HP:0000252;HP:0011968	Unknown	null	0	6	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
499	MONDO:0014606	393	POGZ	[ "HP:0000028", "HP:0000316", "HP:0000348", "HP:0000396", "HP:0000508", "HP:0000540", "HP:0000729", "HP:0000750", "HP:0001182", "HP:0001256", "HP:0001270", "HP:0001388", "HP:0007010", "HP:0007018", "HP:0007874", "HP:0025502", "HP:0100025" ]	HP:0000252;HP:0011968	Unknown	null	11	0	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
503	MONDO:0014606	396	POGZ, ATP1A2	[ "HP:0000248", "HP:0000286", "HP:0000316", "HP:0000403", "HP:0000750", "HP:0000752", "HP:0001256", "HP:0001263", "HP:0001513", "HP:0002205", "HP:0008499", "HP:0011800", "HP:0011968" ]	HP:0000252;HP:0000729	Asian	East Asian	8	0	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
504	MONDO:0014606	397	POGZ	[ "HP:0000403", "HP:0000750", "HP:0001256", "HP:0001263", "HP:0001270", "HP:0001513", "HP:0001998", "HP:0007018", "HP:0008872", "HP:0033454" ]	HP:0000252;HP:0000504;HP:0000729	Unknown	null	4	0	null	female	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
505	MONDO:0014606	397	POGZ	[ "HP:0000403", "HP:0000750", "HP:0001256", "HP:0001263", "HP:0001270", "HP:0001513", "HP:0001998", "HP:0007018", "HP:0008872", "HP:0033454" ]	HP:0000252;HP:0000504;HP:0000729	Unknown	null	11	0	null	female	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
506	MONDO:0014606	398	POGZ	[ "HP:0000540", "HP:0000722", "HP:0000732", "HP:0000750", "HP:0001256", "HP:0001263", "HP:0001270", "HP:0007879", "HP:0008770", "HP:0033055", "HP:0100962" ]	HP:0000252;HP:0000729;HP:0001513;HP:0011968	Unknown	null	12	0	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
507	MONDO:0014606	399	POGZ	[ "HP:0000193", "HP:0000252", "HP:0000286", "HP:0000303", "HP:0000486", "HP:0000639", "HP:0000729", "HP:0000750", "HP:0001263", "HP:0001270", "HP:0001319", "HP:0002019", "HP:0002020", "HP:0002360", "HP:0008872", "HP:0010804", "HP:0012368", "HP:0012745", "HP:0030037", "HP:0030724"...	HP:0001513	Unknown	null	6	0	null	female	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
508	MONDO:0014606	400	POGZ	[ "HP:0000252", "HP:0000272", "HP:0000463", "HP:0000718", "HP:0000729", "HP:0000733", "HP:0000742", "HP:0000750", "HP:0000817", "HP:0001270", "HP:0001290", "HP:0001344", "HP:0001558", "HP:0002019", "HP:0002066", "HP:0002307", "HP:0002643", "HP:0002882", "HP:0003196", "HP:0005280"...	HP:0001513;HP:0002360	European	null	6	0	null	female	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
509	MONDO:0014606	401	POGZ	[ "HP:0000286", "HP:0000358", "HP:0000729", "HP:0000733", "HP:0000735", "HP:0000750", "HP:0000771", "HP:0000805", "HP:0000817", "HP:0000952", "HP:0001182", "HP:0001252", "HP:0001256", "HP:0001513", "HP:0002019", "HP:0002183", "HP:0005105", "HP:0006099", "HP:0007010", "HP:0007015"...	HP:0011968;HP:0031431	European	null	14	0	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
510	MONDO:0014606	402	POGZ	[ "HP:0000729", "HP:0000733", "HP:0000735", "HP:0000750", "HP:0001250", "HP:0001256", "HP:0002353", "HP:0002474" ]	HP:0000252;HP:0001513;HP:0002376	Asian	East Asian	7	0	null	female	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
511	MONDO:0014606	403	POGZ	[ "HP:0000365", "HP:0000486", "HP:0000729", "HP:0000750", "HP:0000752", "HP:0001256", "HP:0001270", "HP:0001763", "HP:0002360", "HP:0007018", "HP:0007429", "HP:0008081", "HP:0010865", "HP:0025161", "HP:0031353", "HP:0100710" ]	HP:0000252;HP:0011968	Asian	Middle-East/West Asian	7	0	null	male	true	616,364	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	true
516	MONDO:0015280	407	KRAS	[ "HP:0000218", "HP:0000545", "HP:0000561", "HP:0000762", "HP:0001634", "HP:0001760", "HP:0002212", "HP:0002223", "HP:0003390", "HP:0003474", "HP:0007002", "HP:0012185" ]	null	European	null	0	0	null	female	true	115,150	cardiofaciocutaneous syndrome	true
517	MONDO:0015280	408	KRAS	[ "HP:0000256", "HP:0000316", "HP:0000341", "HP:0000369", "HP:0000470", "HP:0000474", "HP:0000494", "HP:0000506", "HP:0000508", "HP:0000520", "HP:0001252", "HP:0001642", "HP:0002007", "HP:0005144", "HP:0011968", "HP:0033454", "HP:0034250" ]	null	European	null	2	0	null	female	true	115,150	cardiofaciocutaneous syndrome	true
518	MONDO:0015280	408	KRAS	[ "HP:0000256", "HP:0000316", "HP:0000341", "HP:0000369", "HP:0000470", "HP:0000474", "HP:0000494", "HP:0000506", "HP:0000508", "HP:0000520", "HP:0001252", "HP:0001642", "HP:0002007", "HP:0005144", "HP:0011968", "HP:0033454", "HP:0034250" ]	null	European	null	3	0	null	female	true	115,150	cardiofaciocutaneous syndrome	true
519	MONDO:0015280	409	KRAS	[ "HP:0000218", "HP:0000278", "HP:0000280", "HP:0000316", "HP:0000341", "HP:0000463", "HP:0000470", "HP:0000494", "HP:0000508", "HP:0000520", "HP:0000639", "HP:0000750", "HP:0000767", "HP:0001270", "HP:0001508", "HP:0001684", "HP:0002002", "HP:0002714", "HP:0004322", "HP:0004482"...	null	Unknown	null	0	1	null	female	true	115,150	cardiofaciocutaneous syndrome	true
520	MONDO:0015280	409	KRAS	[ "HP:0000218", "HP:0000278", "HP:0000280", "HP:0000316", "HP:0000341", "HP:0000463", "HP:0000470", "HP:0000494", "HP:0000508", "HP:0000520", "HP:0000639", "HP:0000750", "HP:0000767", "HP:0001270", "HP:0001508", "HP:0001684", "HP:0002002", "HP:0002714", "HP:0004322", "HP:0004482"...	null	Unknown	null	0	5	null	female	true	115,150	cardiofaciocutaneous syndrome	true

360

MONDO:0016033

277

NIPBL

[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000347", "HP:0000463", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000965", "HP:0001007", "HP:0001250", "HP:0001270", "HP:0001773", "HP:0002553", "HP:0002714", "HP:0002996", "HP:0005280"...

null

Others

0

-

male

true

122,470

Cornelia de Lange syndrome

true

361

MONDO:0016033

278

NIPBL

[ "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000463", "HP:0000527", "HP:0000666", "HP:0000750", "HP:0001007", "HP:0001822", "HP:0002553", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0005280", "HP:0008872", "HP:0009623", "HP:0010544" ]

HP:0000175;HP:0000218;HP:0000347;HP:0000365;HP:0000508;HP:0000545;HP:0000664;HP:0000687;HP:0000691;HP:0000954;HP:0000965;HP:0001627;HP:0002996

Others

null

-

male

true

122,470

Cornelia de Lange syndrome

true

362

MONDO:0016033

279

NIPBL

[ "HP:0000218", "HP:0000233", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000369", "HP:0000527", "HP:0000664", "HP:0000752", "HP:0001007", "HP:0001263", "HP:0001377", "HP:0001518", "HP:0001773", "HP:0002572", "HP:0002714", "HP:0004209", "HP:0004279", "HP:0004322", "HP:0004325"...

HP:0000083;HP:0001410

Asian

South-East Asian

null

(child)

male

true

122,470

Cornelia de Lange syndrome

true

364

MONDO:0016033

281

NIPBL

[ "HP:0000219", "HP:0000252", "HP:0000343", "HP:0000664", "HP:0000954", "HP:0001263", "HP:0001270", "HP:0001773", "HP:0002553", "HP:0002714", "HP:0003196", "HP:0004209", "HP:0004279", "HP:0004322", "HP:0004325", "HP:0008897", "HP:0011120" ]

null

Asian

South-East Asian

null

(child)

male

true

122,470

Cornelia de Lange syndrome

true

365

MONDO:0016033

282

NIPBL

[ "HP:0000175", "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000347", "HP:0000407", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000954", "HP:0000961", "HP:0000998", "HP:0001276", "HP:0001508", "HP:0002572", "HP:0002643", "HP:0002714", "HP:0002983"...

null

Asian

Asian Others

null

infant

female

true

122,470

Cornelia de Lange syndrome

true

366

MONDO:0016033

282

NIPBL

[ "HP:0000175", "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000347", "HP:0000407", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000954", "HP:0000961", "HP:0000998", "HP:0001276", "HP:0001508", "HP:0002572", "HP:0002643", "HP:0002714", "HP:0002983"...

null

Asian

Asian Others

1

0

null

female

true

122,470

Cornelia de Lange syndrome

true

367

MONDO:0016033

282

NIPBL

[ "HP:0000175", "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000343", "HP:0000347", "HP:0000407", "HP:0000463", "HP:0000527", "HP:0000574", "HP:0000664", "HP:0000954", "HP:0000961", "HP:0000998", "HP:0001276", "HP:0001508", "HP:0002572", "HP:0002643", "HP:0002714", "HP:0002983"...

null

Asian

Asian Others

2

6

null

female

true

122,470

Cornelia de Lange syndrome

true

368

MONDO:0016033

283

NIPBL

[ "HP:0000175", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000369", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001007", "HP:0001167", "HP:0005280", "HP:0008897", "HP:0010864" ]

null

Asian

East Asian

7

0

null

male

true

122,470

Cornelia de Lange syndrome

true

370

MONDO:0016033

285

NIPBL

[ "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000369", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001007", "HP:0001167", "HP:0005280", "HP:0010864" ]

HP:0000175

Asian

East Asian

2

0

null

female

true

122,470

Cornelia de Lange syndrome

true

371

MONDO:0016033

286

null

[ "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0001007", "HP:0001167", "HP:0005280", "HP:0008897", "HP:0010864" ]

HP:0000175;HP:0000369;HP:0000954

Asian

East Asian

7

0

null

male

true

122,470

Cornelia de Lange syndrome

true

372

MONDO:0016033

287

null

[ "HP:0000175", "HP:0000219", "HP:0000252", "HP:0000294", "HP:0000343", "HP:0000369", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0000954", "HP:0001007", "HP:0005280", "HP:0008897", "HP:0010864" ]

HP:0001167

Asian

East Asian

0

2

null

female

true

122,470

Cornelia de Lange syndrome

true

373

MONDO:0016033

288

NIPBL

[ "HP:0000219", "HP:0000294", "HP:0000343", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001270", "HP:0002002", "HP:0002020", "HP:0002553", "HP:0002714", "HP:0003196", "HP:0004325", "HP:0004691", "HP:0011968" ]

HP:0002817

European

null

3

4

null

female

true

122,470

Cornelia de Lange syndrome

true

374

MONDO:0016033

288

NIPBL

[ "HP:0000219", "HP:0000294", "HP:0000343", "HP:0000463", "HP:0000664", "HP:0000750", "HP:0001270", "HP:0002002", "HP:0002020", "HP:0002553", "HP:0002714", "HP:0003196", "HP:0004325", "HP:0004691", "HP:0011968" ]

HP:0002817

European

null

3

4

null

female

true

122,470

Cornelia de Lange syndrome

true

375

MONDO:0016033

289

NIPBL

[ "HP:0000219", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0001263", "HP:0001328", "HP:0001510", "HP:0001682", "HP:0002020", "HP:0002553", "HP:0003189", "HP:0004322", "HP:0004325", "HP:0008872" ]

null

European

null

(child

male

true

122,470

Cornelia de Lange syndrome

true

376

MONDO:0016033

289

NIPBL

[ "HP:0000219", "HP:0000527", "HP:0000664", "HP:0000750", "HP:0001263", "HP:0001328", "HP:0001510", "HP:0001682", "HP:0002020", "HP:0002553", "HP:0003189", "HP:0004322", "HP:0004325", "HP:0008872" ]

null

European

null

adult)

male

true

122,470

Cornelia de Lange syndrome

true

379

MONDO:0016033

291

NIPBL

[ "HP:0000218", "HP:0000233", "HP:0000294", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000463", "HP:0000527", "HP:0000664", "HP:0000965", "HP:0001180", "HP:0001249", "HP:0001263", "HP:0001510", "HP:0001631", "HP:0002002", "HP:0002015", "HP:0002162", "HP:0002230", "HP:0002465"...

null

African

Sub-Saharan

0

3

null

male

true

122,470

Cornelia de Lange syndrome

true

380

MONDO:0016033

292

NIPBL

[ "HP:0000047", "HP:0000049", "HP:0000054", "HP:0000219", "HP:0000252", "HP:0000316", "HP:0000343", "HP:0000527", "HP:0000750", "HP:0001249", "HP:0001263", "HP:0002015", "HP:0002553", "HP:0003502", "HP:0004279", "HP:0005280", "HP:0007598", "HP:0008897", "HP:0010034", "HP:0011968"...

HP:0000708;HP:0000965;HP:0001007;HP:0002020

European

null

3

5

null

male

true

122,470

Cornelia de Lange syndrome

true

381

MONDO:0016033

292

NIPBL

[ "HP:0000047", "HP:0000049", "HP:0000054", "HP:0000219", "HP:0000252", "HP:0000316", "HP:0000343", "HP:0000527", "HP:0000750", "HP:0001249", "HP:0001263", "HP:0002015", "HP:0002553", "HP:0003502", "HP:0004279", "HP:0005280", "HP:0007598", "HP:0008897", "HP:0010034", "HP:0011968"...

HP:0000708;HP:0000965;HP:0001007;HP:0002020

European

null

8

0

null

male

true

122,470

Cornelia de Lange syndrome

true

382

MONDO:0016033

293

NIPBL

[ "HP:0000219", "HP:0000248", "HP:0000252", "HP:0000294", "HP:0000319", "HP:0000343", "HP:0000463", "HP:0000465", "HP:0000508", "HP:0000527", "HP:0000664", "HP:0000708", "HP:0000965", "HP:0001249", "HP:0001263", "HP:0001344", "HP:0001511", "HP:0002015", "HP:0002020", "HP:0002162"...

null

European

null

0

infant

female

true

122,470

Cornelia de Lange syndrome

true

383

MONDO:0016033

294

null

[ "HP:0000664", "HP:0012759" ]

null

European

null

-

female

true

122,470

Cornelia de Lange syndrome

true

384

MONDO:0016033

295

null

[ "HP:0000664", "HP:0005632", "HP:0012759" ]

null

European

null

-

male

true

122,470

Cornelia de Lange syndrome

true

385

MONDO:0016033

296

null

[ "HP:0000664", "HP:0005632", "HP:0012759" ]

null

European

null

-

female

true

122,470

Cornelia de Lange syndrome

true

388

MONDO:0016033

299

null

[ "HP:0000664", "HP:0012759" ]

null

European

null

-

male

true

122,470

Cornelia de Lange syndrome

true

392

MONDO:0016033

303

null

[ "HP:0000664", "HP:0012759" ]

null

European

null

-

male

true

122,470

Cornelia de Lange syndrome

true

395

MONDO:0016033

306

null

[ "HP:0000664", "HP:0012759" ]

null

European

null

-

female

true

122,470

Cornelia de Lange syndrome

true

397

MONDO:0016033

308

null

[ "HP:0000664", "HP:0012759" ]

null

European

null

-

male

true

122,470

Cornelia de Lange syndrome

true

398

MONDO:0016033

309

null

[ "HP:0000664", "HP:0012759" ]

null

European

null

-

female

true

122,470

Cornelia de Lange syndrome

true

400

MONDO:0016033

311

null

[ "HP:0000664", "HP:0012759" ]

null

European

null

-

male

true

122,470

Cornelia de Lange syndrome

true

401

MONDO:0004933

312

KMT2D

[ "HP:0000637", "HP:0001510", "HP:0004325", "HP:0007655", "HP:0011968" ]

null

European

null

3

6

(child)

male

false

241,550

hypoplastic left heart syndrome

true

403

MONDO:0016512

314

KMT2D

[ "HP:0000924", "HP:0001212", "HP:0001249", "HP:0002079", "HP:0007359", "HP:0008897", "HP:0011146" ]

null

European

null

11

2

null

male

true

147,920

Kabuki syndrome

true

404

MONDO:0016512

315

KMT2D

[ "HP:0000924", "HP:0001212", "HP:0001249", "HP:0008897", "HP:0010627", "HP:0010850" ]

null

European

null

12

4

null

female

true

147,920

Kabuki syndrome

true

405

MONDO:0016512

316

KMT2D

[ "HP:0000085", "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001629", "HP:0002023", "HP:0002353", "HP:0002553", "HP:0004942", "HP:0005338", "HP:0005580", "HP:0007477", "HP:0007655", "HP:0007703", "HP:0008807"...

null

Asian

East Asian

6

0

null

female

true

147,920

Kabuki syndrome

true

408

MONDO:0016512

319

KMT2D

[ "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000891", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001620", "HP:0001680", "HP:0002198", "HP:0002553", "HP:0002673", "HP:0002750", "HP:0005338", "HP:0006668", "HP:0007655", "HP:0008897", "HP:0010314"...

null

Asian

East Asian

4

0

null

female

true

147,920

Kabuki syndrome

true

409

MONDO:0016512

320

KMT2D

[ "HP:0000028", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000824", "HP:0000924", "HP:0001156", "HP:0001250", "HP:0001256", "HP:0001622", "HP:0001792", "HP:0001998", "HP:0002414", "HP:0002553", "HP:0002750", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0010674"...

null

Asian

East Asian

5

0

null

male

true

147,920

Kabuki syndrome

true

411

MONDO:0016512

322

KMT2D

[ "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0001256", "HP:0001530", "HP:0001629", "HP:0001762", "HP:0002553", "HP:0005338", "HP:0007655" ]

null

Asian

East Asian

1

0

null

female

true

147,920

Kabuki syndrome

true

412

MONDO:0016512

323

KMT2D

[ "HP:0000028", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000775", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001250", "HP:0001537", "HP:0001763", "HP:0002553", "HP:0003316", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0010674" ]

null

Asian

East Asian

2

0

null

male

true

147,920

Kabuki syndrome

true

414

MONDO:0016512

325

KMT2D

[ "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000482", "HP:0000637", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001537", "HP:0002553", "HP:0003316", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0010674", "HP:0011588" ]

null

Asian

East Asian

11

0

null

male

true

147,920

Kabuki syndrome

true

415

MONDO:0016512

326

KMT2D

[ "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0002553", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0010674" ]

null

Asian

East Asian

5

0

null

male

true

147,920

Kabuki syndrome

true

416

MONDO:0016512

327

KMT2D

[ "HP:0000175", "HP:0000411", "HP:0000437", "HP:0000637", "HP:0000891", "HP:0000924", "HP:0001156", "HP:0001212", "HP:0001249", "HP:0001252", "HP:0001537", "HP:0001622", "HP:0001636", "HP:0002553", "HP:0005338", "HP:0007477", "HP:0007655", "HP:0008897", "HP:0009623", "HP:0010314"...

null

Asian

East Asian

0

6

null

female

true

147,920

Kabuki syndrome

true

417

MONDO:0016512

328

KMT2D

[]

null

European

null

0

6

null

male

true

147,920

Kabuki syndrome

false

418

MONDO:0016512

328

KMT2D

[]

null

European

null

12

0

null

male

true

147,920

Kabuki syndrome

false

419

MONDO:0016512

329

KMT2D

[]

null

European

null

0

1

null

male

true

147,920

Kabuki syndrome

false

420

MONDO:0016512

329

KMT2D

[]

null

European

null

18

0

null

male

true

147,920

Kabuki syndrome

false

423

MONDO:0016512

331

KMT2D

[]

null

European

null

0

1

null

male

true

147,920

Kabuki syndrome

false

424

MONDO:0016512

331

KMT2D

[]

null

European

null

11

0

null

male

true

147,920

Kabuki syndrome

false

425

MONDO:0016512

332

KMT2D

[]

null

European

null

9

0

null

male

true

147,920

Kabuki syndrome

false

426

MONDO:0016512

333

KMT2D

[]

null

European

null

2

0

null

male

true

147,920

Kabuki syndrome

false

427

MONDO:0016512

334

KMT2D

[]

null

Asian

Middle-East/West Asian

3

0

null

male

true

147,920

Kabuki syndrome

false

428

MONDO:0016512

335

KMT2D

[]

null

European

null

-

male

true

147,920

Kabuki syndrome

false

429

MONDO:0016512

336

KMT2D

[]

null

European

null

-

male

true

147,920

Kabuki syndrome

false

432

MONDO:0016512

339

KMT2D

[]

null

European

null

2

0

null

female

true

147,920

Kabuki syndrome

false

433

MONDO:0016512

340

KMT2D

[]

null

European

null

9

0

null

female

true

147,920

Kabuki syndrome

false

434

MONDO:0016512

341

KMT2D

[]

null

European

null

17

0

null

female

true

147,920

Kabuki syndrome

false

436

MONDO:0016512

343

KMT2D

[]

null

European

null

6

0

null

female

true

147,920

Kabuki syndrome

false

437

MONDO:0016596

345

PIGV, SLC9A1

[ "HP:0000219", "HP:0000316", "HP:0000358", "HP:0000431", "HP:0000455", "HP:0000582", "HP:0000637", "HP:0001156", "HP:0001249", "HP:0001252", "HP:0001344", "HP:0001792", "HP:0002019", "HP:0002251", "HP:0002714", "HP:0003155", "HP:0003196", "HP:0004209", "HP:0009882", "HP:0011344"...

HP:0000175;HP:0000256;HP:0000286;HP:0000378;HP:0001216;HP:0001250;HP:0001545;HP:0002023;HP:0008504;HP:0410030

European

null

4

2

null

female

true

239,300

hyperphosphatasia-intellectual disability syndrome

true

438

MONDO:0014310

346

FAM111B

[ "HP:0000535", "HP:0000653", "HP:0000992", "HP:0001029", "HP:0002209", "HP:0005750", "HP:0007340", "HP:0008070", "HP:0025493", "HP:0030878", "HP:0045075" ]

HP:0000518;HP:0000964;HP:0001004;HP:0001249;HP:0001510;HP:0002015;HP:0002046;HP:0002164;HP:0002240;HP:0002522;HP:0002570;HP:0002650;HP:0003202;HP:0008064;HP:0011355;HP:0025293;HP:0025526;HP:0100360;HP:0100658;HP:0100899

European

null

8

0

null

male

false

615,704

hereditary sclerosing poikiloderma with tendon and pulmonary involvement

true

447

MONDO:0016596

357

PGAP3

[ "HP:0000154", "HP:0000256", "HP:0000293", "HP:0000637", "HP:0000657", "HP:0000691", "HP:0000717", "HP:0000750", "HP:0001249", "HP:0001251", "HP:0001263", "HP:0001270", "HP:0001344", "HP:0001382", "HP:0003155", "HP:0008551", "HP:0010804", "HP:0031936" ]

null

European

null

18

0

null

female

true

239,300

hyperphosphatasia-intellectual disability syndrome

true

449

MONDO:0016596

354

PGAP3

[ "HP:0000154", "HP:0000256", "HP:0000280", "HP:0000293", "HP:0000322", "HP:0000637", "HP:0000657", "HP:0001250", "HP:0001251", "HP:0001263", "HP:0001270", "HP:0001315", "HP:0001344", "HP:0001382", "HP:0003155", "HP:0006962", "HP:0010804", "HP:0031936" ]

null

European

null

18

0

null

male

true

239,300

hyperphosphatasia-intellectual disability syndrome

true

450

MONDO:0015452

358

BICRA

[ "HP:0000028", "HP:0000047", "HP:0000218", "HP:0000219", "HP:0000270", "HP:0000288", "HP:0000331", "HP:0000341", "HP:0000347", "HP:0000426", "HP:0000430", "HP:0000463", "HP:0000486", "HP:0000490", "HP:0000527", "HP:0000574", "HP:0000582", "HP:0000664", "HP:0000735", "HP:0001263"...

HP:0000160;HP:0000220;HP:0000252;HP:0000256;HP:0000268;HP:0000286;HP:0000293;HP:0000294;HP:0000307;HP:0000316;HP:0000322;HP:0000343;HP:0000368;HP:0000395;HP:0000411;HP:0000414;HP:0000494;HP:0000601;HP:0000767;HP:0001238;HP:0002007;HP:0002057;HP:0002209;HP:0002553;HP:0003186;HP:0005280;HP:0005487;HP:0009748;HP:0009890;H...

Unknown

null

8

0

null

male

true

135,900

Coffin-Siris syndrome

true

451

MONDO:0010497

359

DDX3X

[ "HP:0000337", "HP:0000505", "HP:0001252", "HP:0001388", "HP:0002079", "HP:0010864", "HP:0100022" ]

null

European

null

4

0

null

female

true

300,958

intellectual disability, X-linked 102

true

454

MONDO:0859159

362

PSMC3

[ "HP:0000219", "HP:0000272", "HP:0000322", "HP:0000336", "HP:0000486", "HP:0000519", "HP:0000664", "HP:0000729", "HP:0001271", "HP:0001344", "HP:0007618", "HP:0008527", "HP:0009887", "HP:0009938", "HP:0010864", "HP:0011344", "HP:0100830" ]

null

Asian

Middle-East/West Asian

8

0

null

male

true

619,354

deafness, cataract, impaired intellectual development, and polyneuropathy

true

455

MONDO:0859159

362

PSMC3

[ "HP:0000219", "HP:0000272", "HP:0000322", "HP:0000336", "HP:0000486", "HP:0000519", "HP:0000664", "HP:0000729", "HP:0001271", "HP:0001344", "HP:0007618", "HP:0008527", "HP:0009887", "HP:0009938", "HP:0010864", "HP:0011344", "HP:0100830" ]

null

Asian

Middle-East/West Asian

16

0

null

male

true

619,354

deafness, cataract, impaired intellectual development, and polyneuropathy

true

457

MONDO:0859159

363

PSMC3

[ "HP:0000219", "HP:0000272", "HP:0000322", "HP:0000336", "HP:0000519", "HP:0001271", "HP:0007618", "HP:0008527", "HP:0009887", "HP:0009938", "HP:0011343" ]

HP:0000486;HP:0000664;HP:0000729;HP:0100830

Asian

Middle-East/West Asian

6

0

null

male

true

619,354

deafness, cataract, impaired intellectual development, and polyneuropathy

true

458

MONDO:0859159

363

PSMC3

[ "HP:0000219", "HP:0000272", "HP:0000322", "HP:0000336", "HP:0000519", "HP:0001271", "HP:0007618", "HP:0008527", "HP:0009887", "HP:0009938", "HP:0011343" ]

HP:0000486;HP:0000664;HP:0000729;HP:0100830

Asian

Middle-East/West Asian

14

0

null

male

true

619,354

deafness, cataract, impaired intellectual development, and polyneuropathy

true

461

MONDO:0001029

365

MYO18B

[ "HP:0000175", "HP:0000219", "HP:0000252", "HP:0000343", "HP:0000347", "HP:0000348", "HP:0000369", "HP:0000414", "HP:0000494", "HP:0000508", "HP:0001270", "HP:0001290", "HP:0001508", "HP:0001653", "HP:0001655", "HP:0001713", "HP:0002162", "HP:0002230", "HP:0002837", "HP:0002944"...

null

Asian

Middle-East/West Asian

0

5

null

male

false

118,100

Klippel-Feil syndrome

true

462

MONDO:0014699

366

CHAMP1

[ "HP:0000164", "HP:0000194", "HP:0000218", "HP:0000219", "HP:0000232", "HP:0000252", "HP:0000276", "HP:0000307", "HP:0000322", "HP:0000463", "HP:0000486", "HP:0000540", "HP:0000733", "HP:0000750", "HP:0001252", "HP:0001270", "HP:0001382", "HP:0001537", "HP:0001824", "HP:0002013"...

HP:0000286;HP:0000369;HP:0000582;HP:0002719

European

null

0

null

male

true

616,579

intellectual disability, autosomal dominant 40

true

464

MONDO:0020836

368

CHAMP1

[ "HP:0000194", "HP:0000219", "HP:0000232", "HP:0000252", "HP:0000276", "HP:0000307", "HP:0000322", "HP:0000369", "HP:0000486", "HP:0000577", "HP:0000582", "HP:0000750", "HP:0001252", "HP:0001263", "HP:0001270", "HP:0001350", "HP:0001382", "HP:0001508", "HP:0002015", "HP:0002045"...

HP:0000286;HP:0001537

European

null

0

null

male

true

209,850

autism, susceptiblity to

true

465

MONDO:0014699

369

CHAMP1

[ "HP:0000179", "HP:0000194", "HP:0000218", "HP:0000219", "HP:0000252", "HP:0000286", "HP:0000297", "HP:0000322", "HP:0000389", "HP:0000431", "HP:0000470", "HP:0000474", "HP:0000483", "HP:0000574", "HP:0000582", "HP:0000691", "HP:0000699", "HP:0000733", "HP:0000750", "HP:0001260"...

HP:0000276;HP:0000307;HP:0000369;HP:0000486;HP:0001382;HP:0001537

European

null

0

null

female

true

616,579

intellectual disability, autosomal dominant 40

true

468

MONDO:0060763

372

BCL11B, CAMSAP1

[ "HP:0000164", "HP:0000219", "HP:0000276", "HP:0000343", "HP:0000448", "HP:0000668", "HP:0000682", "HP:0001182", "HP:0001249", "HP:0001260", "HP:0001263", "HP:0001270", "HP:0002028", "HP:0002167", "HP:0002719", "HP:0009765", "HP:0010282", "HP:0045025", "HP:0045074", "HP:0100874"...

HP:0000316;HP:0000539;HP:0000729;HP:0002058;HP:0002099;HP:0011968;HP:0012393

European

null

8

11

null

male

true

618,092

intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

true

469

MONDO:0060763

373

BCL11B

[ "HP:0000160", "HP:0000219", "HP:0000278", "HP:0000316", "HP:0000337", "HP:0000343", "HP:0000402", "HP:0000448", "HP:0000540", "HP:0000729", "HP:0000750", "HP:0001249", "HP:0001270", "HP:0001276", "HP:0002015", "HP:0002020", "HP:0002058", "HP:0002099", "HP:0002167", "HP:0002179"...

HP:0000164

European

null

1

8

null

male

true

618,092

intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

true

471

MONDO:0060763

375

BCL11B

[ "HP:0000160", "HP:0000164", "HP:0000219", "HP:0000276", "HP:0000316", "HP:0000322", "HP:0000347", "HP:0000358", "HP:0000448", "HP:0000463", "HP:0000582", "HP:0001249", "HP:0001252", "HP:0001270", "HP:0001760", "HP:0001770", "HP:0002020", "HP:0002021", "HP:0002058", "HP:0002099"...

HP:0000343;HP:0000539;HP:0000729;HP:0045074

European

null

2

3

null

male

true

618,092

intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

true

472

MONDO:0060763

376

BCL11B, NYAP1

[ "HP:0000164", "HP:0000219", "HP:0000276", "HP:0000307", "HP:0000448", "HP:0000455", "HP:0000545", "HP:0000582", "HP:0000691", "HP:0002099", "HP:0002167", "HP:0002342", "HP:0002719", "HP:0003074", "HP:0004322", "HP:0004904", "HP:0011950", "HP:0012393", "HP:0025268" ]

HP:0000316;HP:0000343;HP:0000729;HP:0001270;HP:0002058;HP:0011968;HP:0045025;HP:0045074

Others

American - Latin/Hispanic

7

0

null

male

true

618,092

intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

true

474

MONDO:0060763

378

BCL11B

[ "HP:0000286", "HP:0000343", "HP:0000431", "HP:0000545", "HP:0000750", "HP:0000954", "HP:0001249", "HP:0001257", "HP:0001270", "HP:0002058", "HP:0002099", "HP:0002119", "HP:0002167", "HP:0002273", "HP:0002453", "HP:0002835", "HP:0011968", "HP:0012393", "HP:0045025" ]

HP:0000164;HP:0000219;HP:0000316;HP:0000448;HP:0000729;HP:0002719;HP:0045074

European

null

6

2

null

female

true

618,092

intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

true

475

MONDO:0001029

379

MYO18B

[ "HP:0000218", "HP:0000252", "HP:0000293", "HP:0000369", "HP:0000414", "HP:0000494", "HP:0000508", "HP:0000750", "HP:0000938", "HP:0001324", "HP:0001511", "HP:0001943", "HP:0002194", "HP:0004322", "HP:0008872" ]

HP:0000308;HP:0001627;HP:0002162

Asian

Middle-East/West Asian

0

null

male

false

118,100

Klippel-Feil syndrome

true

477

MONDO:0001029

380

MYO18B

[ "HP:0000278", "HP:0000369", "HP:0000414", "HP:0000494", "HP:0000508", "HP:0000577", "HP:0000767", "HP:0000822", "HP:0000914", "HP:0000954", "HP:0001324", "HP:0001638", "HP:0001712", "HP:0001761", "HP:0001762", "HP:0002162", "HP:0002949", "HP:0004322", "HP:0006109", "HP:0030084"...

HP:0000218;HP:0012664

Others

American - Native

51

0

null

male

false

118,100

Klippel-Feil syndrome

true

479

MONDO:0001029

381

MYO18B

[ "HP:0000218", "HP:0000238", "HP:0000347", "HP:0000592", "HP:0001251", "HP:0001252", "HP:0001263", "HP:0001385", "HP:0001623", "HP:0002572", "HP:0002650", "HP:0002885", "HP:0004279", "HP:0004602", "HP:0007598", "HP:0008872" ]

null

European

null

0

null

male

false

118,100

Klippel-Feil syndrome

true

481

MONDO:0001029

383

MYO18B

[ "HP:0000218", "HP:0000219", "HP:0000341", "HP:0000343", "HP:0000347", "HP:0000369", "HP:0000414", "HP:0000465", "HP:0000470", "HP:0001007", "HP:0001324", "HP:0001488", "HP:0001511", "HP:0001621", "HP:0002162", "HP:0002275", "HP:0002901", "HP:0002949", "HP:0004322", "HP:0004325"...

null

Asian

Middle-East/West Asian

0

null

female

false

118,100

Klippel-Feil syndrome

true

483

MONDO:0008434

384

POGZ, RAI1

[ "HP:0000233", "HP:0000248", "HP:0000252", "HP:0000272", "HP:0000303", "HP:0000307", "HP:0000322", "HP:0000437", "HP:0000455", "HP:0000470", "HP:0000545", "HP:0000718", "HP:0001263", "HP:0001290", "HP:0001388", "HP:0001513", "HP:0002136", "HP:0002360", "HP:0002515", "HP:0002714"...

HP:0000347;HP:0000365;HP:0000609;HP:0001156;HP:0001250

European

null

5

0

null

female

true

182,290

Smith-Magenis syndrome

true

485

MONDO:0014606

386

POGZ

[ "HP:0000193", "HP:0000233", "HP:0000272", "HP:0000322", "HP:0000455", "HP:0000483", "HP:0000486", "HP:0000540", "HP:0000708", "HP:0001156", "HP:0001172", "HP:0001252", "HP:0001263", "HP:0001508", "HP:0001566", "HP:0001631", "HP:0001769", "HP:0001780", "HP:0002033", "HP:0002384"...

HP:0000248;HP:0000252;HP:0000303;HP:0000307;HP:0000347;HP:0000470;HP:0000609;HP:0001388;HP:0004322;HP:0005280;HP:0010535;HP:0011800

European

null

0

5

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

486

MONDO:0014606

386

POGZ

[ "HP:0000193", "HP:0000233", "HP:0000272", "HP:0000322", "HP:0000455", "HP:0000483", "HP:0000486", "HP:0000540", "HP:0000708", "HP:0001156", "HP:0001172", "HP:0001252", "HP:0001263", "HP:0001508", "HP:0001566", "HP:0001631", "HP:0001769", "HP:0001780", "HP:0002033", "HP:0002384"...

HP:0000248;HP:0000252;HP:0000303;HP:0000307;HP:0000347;HP:0000470;HP:0000609;HP:0001388;HP:0004322;HP:0005280;HP:0010535;HP:0011800

European

null

4

0

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

488

MONDO:0014606

387

POGZ

[ "HP:0000218", "HP:0000248", "HP:0000252", "HP:0000272", "HP:0000303", "HP:0000307", "HP:0000322", "HP:0000337", "HP:0000340", "HP:0000358", "HP:0000407", "HP:0000437", "HP:0000455", "HP:0000486", "HP:0000510", "HP:0000577", "HP:0000582", "HP:0000609", "HP:0000750", "HP:0001252"...

HP:0000233;HP:0000347;HP:0000470;HP:0001156;HP:0001250;HP:0001252;HP:0001388;HP:0005280

European

null

2

0

null

female

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

491

MONDO:0014606

389

POGZ

[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000609", "HP:0000711", "HP:0000729", "HP:0000733", "HP:0000750", "HP:0000817", "HP:0001270", "HP:0002007", "HP:0002360", "HP:0002566", "HP:0002719", "HP:0010864", "HP:0011344", "HP:0011800", "HP:0030724" ]

HP:0000505

Unknown

null

1

0

null

female

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

492

MONDO:0014606

389

POGZ

[ "HP:0000248", "HP:0000252", "HP:0000316", "HP:0000609", "HP:0000711", "HP:0000729", "HP:0000733", "HP:0000750", "HP:0000817", "HP:0001270", "HP:0002007", "HP:0002360", "HP:0002566", "HP:0002719", "HP:0010864", "HP:0011344", "HP:0011800", "HP:0030724" ]

HP:0000505

Unknown

null

3

0

null

female

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

493

MONDO:0014606

390

POGZ

[ "HP:0000023", "HP:0000110", "HP:0000126", "HP:0000219", "HP:0000248", "HP:0000303", "HP:0000324", "HP:0000460", "HP:0000463", "HP:0000483", "HP:0000508", "HP:0000540", "HP:0000582", "HP:0000729", "HP:0000750", "HP:0002057", "HP:0002719", "HP:0006837", "HP:0008872", "HP:0010806"...

HP:0001513

Unknown

null

9

0

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

498

MONDO:0014606

393

POGZ

[ "HP:0000028", "HP:0000316", "HP:0000348", "HP:0000396", "HP:0000508", "HP:0000540", "HP:0000729", "HP:0000750", "HP:0001182", "HP:0001256", "HP:0001270", "HP:0001388", "HP:0007010", "HP:0007018", "HP:0007874", "HP:0025502", "HP:0100025" ]

HP:0000252;HP:0011968

Unknown

null

0

6

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

499

MONDO:0014606

393

POGZ

[ "HP:0000028", "HP:0000316", "HP:0000348", "HP:0000396", "HP:0000508", "HP:0000540", "HP:0000729", "HP:0000750", "HP:0001182", "HP:0001256", "HP:0001270", "HP:0001388", "HP:0007010", "HP:0007018", "HP:0007874", "HP:0025502", "HP:0100025" ]

HP:0000252;HP:0011968

Unknown

null

11

0

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

503

MONDO:0014606

396

POGZ, ATP1A2

[ "HP:0000248", "HP:0000286", "HP:0000316", "HP:0000403", "HP:0000750", "HP:0000752", "HP:0001256", "HP:0001263", "HP:0001513", "HP:0002205", "HP:0008499", "HP:0011800", "HP:0011968" ]

HP:0000252;HP:0000729

Asian

East Asian

8

0

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

504

MONDO:0014606

397

POGZ

[ "HP:0000403", "HP:0000750", "HP:0001256", "HP:0001263", "HP:0001270", "HP:0001513", "HP:0001998", "HP:0007018", "HP:0008872", "HP:0033454" ]

HP:0000252;HP:0000504;HP:0000729

Unknown

null

4

0

null

female

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

505

MONDO:0014606

397

POGZ

[ "HP:0000403", "HP:0000750", "HP:0001256", "HP:0001263", "HP:0001270", "HP:0001513", "HP:0001998", "HP:0007018", "HP:0008872", "HP:0033454" ]

HP:0000252;HP:0000504;HP:0000729

Unknown

null

11

0

null

female

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

506

MONDO:0014606

398

POGZ

[ "HP:0000540", "HP:0000722", "HP:0000732", "HP:0000750", "HP:0001256", "HP:0001263", "HP:0001270", "HP:0007879", "HP:0008770", "HP:0033055", "HP:0100962" ]

HP:0000252;HP:0000729;HP:0001513;HP:0011968

Unknown

null

12

0

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

507

MONDO:0014606

399

POGZ

[ "HP:0000193", "HP:0000252", "HP:0000286", "HP:0000303", "HP:0000486", "HP:0000639", "HP:0000729", "HP:0000750", "HP:0001263", "HP:0001270", "HP:0001319", "HP:0002019", "HP:0002020", "HP:0002360", "HP:0008872", "HP:0010804", "HP:0012368", "HP:0012745", "HP:0030037", "HP:0030724"...

HP:0001513

Unknown

null

6

0

null

female

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

508

MONDO:0014606

400

POGZ

[ "HP:0000252", "HP:0000272", "HP:0000463", "HP:0000718", "HP:0000729", "HP:0000733", "HP:0000742", "HP:0000750", "HP:0000817", "HP:0001270", "HP:0001290", "HP:0001344", "HP:0001558", "HP:0002019", "HP:0002066", "HP:0002307", "HP:0002643", "HP:0002882", "HP:0003196", "HP:0005280"...

HP:0001513;HP:0002360

European

null

6

0

null

female

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

509

MONDO:0014606

401

POGZ

[ "HP:0000286", "HP:0000358", "HP:0000729", "HP:0000733", "HP:0000735", "HP:0000750", "HP:0000771", "HP:0000805", "HP:0000817", "HP:0000952", "HP:0001182", "HP:0001252", "HP:0001256", "HP:0001513", "HP:0002019", "HP:0002183", "HP:0005105", "HP:0006099", "HP:0007010", "HP:0007015"...

HP:0011968;HP:0031431

European

null

14

0

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

510

MONDO:0014606

402

POGZ

[ "HP:0000729", "HP:0000733", "HP:0000735", "HP:0000750", "HP:0001250", "HP:0001256", "HP:0002353", "HP:0002474" ]

HP:0000252;HP:0001513;HP:0002376

Asian

East Asian

7

0

null

female

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

511

MONDO:0014606

403

POGZ

[ "HP:0000365", "HP:0000486", "HP:0000729", "HP:0000750", "HP:0000752", "HP:0001256", "HP:0001270", "HP:0001763", "HP:0002360", "HP:0007018", "HP:0007429", "HP:0008081", "HP:0010865", "HP:0025161", "HP:0031353", "HP:0100710" ]

HP:0000252;HP:0011968

Asian

Middle-East/West Asian

7

0

null

male

true

616,364

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

true

516

MONDO:0015280

407

KRAS

[ "HP:0000218", "HP:0000545", "HP:0000561", "HP:0000762", "HP:0001634", "HP:0001760", "HP:0002212", "HP:0002223", "HP:0003390", "HP:0003474", "HP:0007002", "HP:0012185" ]

null

European

null

0

null

female

true

115,150

cardiofaciocutaneous syndrome

true

517

MONDO:0015280

408

KRAS

[ "HP:0000256", "HP:0000316", "HP:0000341", "HP:0000369", "HP:0000470", "HP:0000474", "HP:0000494", "HP:0000506", "HP:0000508", "HP:0000520", "HP:0001252", "HP:0001642", "HP:0002007", "HP:0005144", "HP:0011968", "HP:0033454", "HP:0034250" ]

null

European

null

2

0

null

female

true

115,150

cardiofaciocutaneous syndrome

true

518

MONDO:0015280

408

KRAS

[ "HP:0000256", "HP:0000316", "HP:0000341", "HP:0000369", "HP:0000470", "HP:0000474", "HP:0000494", "HP:0000506", "HP:0000508", "HP:0000520", "HP:0001252", "HP:0001642", "HP:0002007", "HP:0005144", "HP:0011968", "HP:0033454", "HP:0034250" ]

null

European

null

3

0

null

female

true

115,150

cardiofaciocutaneous syndrome

true

519

MONDO:0015280

409

KRAS

[ "HP:0000218", "HP:0000278", "HP:0000280", "HP:0000316", "HP:0000341", "HP:0000463", "HP:0000470", "HP:0000494", "HP:0000508", "HP:0000520", "HP:0000639", "HP:0000750", "HP:0000767", "HP:0001270", "HP:0001508", "HP:0001684", "HP:0002002", "HP:0002714", "HP:0004322", "HP:0004482"...

null

Unknown

null

0

1

null

female

true

115,150

cardiofaciocutaneous syndrome

true

520

MONDO:0015280

409

KRAS

[ "HP:0000218", "HP:0000278", "HP:0000280", "HP:0000316", "HP:0000341", "HP:0000463", "HP:0000470", "HP:0000494", "HP:0000508", "HP:0000520", "HP:0000639", "HP:0000750", "HP:0000767", "HP:0001270", "HP:0001508", "HP:0001684", "HP:0002002", "HP:0002714", "HP:0004322", "HP:0004482"...

null

Unknown

null

0

5

null

female

true

115,150

cardiofaciocutaneous syndrome

true