Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

ICD-10 code	ICD-10 name	n_patients	n_controls	Relative Risk	Fisher's uncorrected p-value	FDR	Median age at first diagnosis (SD)	Syndrome	In suppl. table	Analysis
A04	Other bacterial intestinal infections	26	147	3.181	0.00000247	0.00000818	27.43 (24.21)	Down syndrome	Table_S1	Direct comorbidity
A04	Other bacterial intestinal infections	20	98	3.617	0.00000728	0.0000239	25.33 (22.87)	Down syndrome	Table_S3	Male DS direct comorbidity
A04	Other bacterial intestinal infections	10	46	4.082	0.000758	0.00211	4.17 (21.97)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
A08	Viral and other specified intestinal infections	98	568	3.034	3.7e-19	1.23e-18	4.61 (16.08)	Down syndrome	Table_S1	Direct comorbidity
A08	Viral and other specified intestinal infections	17	81	3.556	0.0000433	0.000262	21.55 (23.4)	Klinefelter syndrome	Table_S1	Direct comorbidity
A08	Viral and other specified intestinal infections	7	12	10.949	0.0000197	0.0000482	1.43 (2.03)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
A08	Viral and other specified intestinal infections	6	12	8.969	0.000242	0.000774	4.08 (4.32)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
A08	Viral and other specified intestinal infections	9	33	5.280	0.000183	0.000511	1.63 (0.96)	Angelman syndrome	Table_S1	Direct comorbidity
A08	Viral and other specified intestinal infections	43	280	2.786	0.0000000311	0.00000011	2.98 (14.67)	Down syndrome	Table_S3	Female DS direct comorbidity
A08	Viral and other specified intestinal infections	55	309	3.080	0.0000000000137	0.0000000000448	7.03 (16.83)	Down syndrome	Table_S3	Male DS direct comorbidity
A08	Viral and other specified intestinal infections	54	223	4.282	1.33e-16	3.69e-16	2.65 (6.13)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	267	1995	2.341	3.25e-33	1.07e-32	6.61 (19.75)	Down syndrome	Table_S1	Direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	44	508	1.524	0.0079	0.0364	7.2 (21.25)	Turner syndrome	Table_S1	Direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	16	41	7.202	0.00000000267	0.00000000653	4.17 (3.89)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	12	41	5.156	0.0000122	0.0000391	1.26 (8.71)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	11	68	3.122	0.00178	0.00495	5.53 (6.6)	Angelman syndrome	Table_S1	Direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	19	151	2.270	0.00185	0.0178	1.7 (14.24)	Fragile X syndrome	Table_S1	Direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	90	967	1.673	0.00000746	0.0000264	9.08 (21.47)	Down syndrome	Table_S3	Female DS direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	177	1084	2.798	1.18e-30	3.85e-30	6.03 (18.72)	Down syndrome	Table_S3	Male DS direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	7	26	5.185	0.00111	0.0179	4.64 (18.6)	Fragile X syndrome	Table_S5	Female FXS direct comorbidity
A09	Diarrhoea and gastroenteritis of presumed infectious origin	131	768	2.994	6.27e-26	1.74e-25	4.19 (11.36)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
A38	Scarlet fever	13	25	9.390	0.0000000513	0.00000017	4.07 (12.46)	Down syndrome	Table_S1	Direct comorbidity
A38	Scarlet fever	7	12	10.949	0.0000339	0.00012	4.4 (14.42)	Down syndrome	Table_S3	Female DS direct comorbidity
A38	Scarlet fever	6	21	5.426	0.00309	0.0101	3.02 (9.17)	Down syndrome	Table_S3	Male DS direct comorbidity
A38	Scarlet fever	11	10	19.027	0.00000000237	0.0000000066	3.58 (2.27)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
A39	Meningococcal infection	11	39	5.232	0.0000611	0.000202	4.23 (21.34)	Down syndrome	Table_S1	Direct comorbidity
A39	Meningococcal infection	6	15	7.784	0.000607	0.00215	9.29 (21.61)	Down syndrome	Table_S3	Female DS direct comorbidity
A39	Meningococcal infection	5	17	5.684	0.00617	0.0202	2.94 (20.77)	Down syndrome	Table_S3	Male DS direct comorbidity
A39	Meningococcal infection	5	21	4.757	0.0117	0.0325	2.94 (5.1)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
A40	Streptococcal septicaemia	16	85	3.447	0.000106	0.000352	9.81 (27.6)	Down syndrome	Table_S1	Direct comorbidity
A40	Streptococcal septicaemia	10	31	6.116	0.0000431	0.000153	5.12 (29.73)	Down syndrome	Table_S3	Female DS direct comorbidity
A40	Streptococcal septicaemia	6	28	4.116	0.0101	0.0331	26.51 (23.62)	Down syndrome	Table_S3	Male DS direct comorbidity
A40	Streptococcal septicaemia	5	21	4.757	0.0117	0.0325	1.34 (31.42)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
A41	Other septicaemia	5	19	5.425	0.00673	0.0325	5.69 (27.61)	Edwards syndrome	Table_S1	Direct comorbidity
A41	Other septicaemia	174	770	3.958	0	1.4013e-45	47.7 (24.6)	Down syndrome	Table_S1	Direct comorbidity
A41	Other septicaemia	16	136	2.139	0.0091	0.0419	58.96 (25.16)	Turner syndrome	Table_S1	Direct comorbidity
A41	Other septicaemia	74	275	4.835	7e-25	2.48e-24	44.98 (24.32)	Down syndrome	Table_S3	Female DS direct comorbidity
A41	Other septicaemia	100	458	3.752	1.28e-25	4.18e-25	49.43 (24.74)	Down syndrome	Table_S3	Male DS direct comorbidity
A41	Other septicaemia	50	149	5.930	2.22e-20	6.17e-20	9.23 (22.69)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
A46	Erysipelas	111	632	3.086	4.9e-22	1.62e-21	46.44 (18.99)	Down syndrome	Table_S1	Direct comorbidity
A46	Erysipelas	38	158	3.974	0.0000000000346	0.000000000209	50.77 (14.25)	Klinefelter syndrome	Table_S1	Direct comorbidity
A46	Erysipelas	17	81	3.784	0.000021	0.0000969	48.01 (21.89)	Turner syndrome	Table_S1	Direct comorbidity
A46	Erysipelas	41	225	3.307	0.000000000878	0.00000000312	45.1 (18.68)	Down syndrome	Table_S3	Female DS direct comorbidity
A46	Erysipelas	70	452	2.673	0.00000000000762	0.000000000025	48.37 (19.15)	Down syndrome	Table_S3	Male DS direct comorbidity
A46	Erysipelas	31	95	5.814	0.000000000000695	0.00000000000193	19.96 (20.18)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
A46	Erysipelas	6	22	5.136	0.00369	0.0263	29.59 (24.66)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
A49	Bacterial infection of unspecified site	81	445	3.206	3.01e-17	9.97e-17	44.72 (22.93)	Down syndrome	Table_S1	Direct comorbidity
A49	Bacterial infection of unspecified site	35	180	3.539	0.00000000343	0.0000000122	44.72 (22.41)	Down syndrome	Table_S3	Female DS direct comorbidity
A49	Bacterial infection of unspecified site	46	264	3.024	0.00000000114	0.00000000374	41.02 (23.27)	Down syndrome	Table_S3	Male DS direct comorbidity
A49	Bacterial infection of unspecified site	25	98	4.580	0.00000000832	0.0000000231	9.81 (18.25)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
B01	Varicella [chickenpox]	32	107	5.329	0.00000000000265	0.00000000000878	3.24 (11.05)	Down syndrome	Table_S1	Direct comorbidity
B01	Varicella [chickenpox]	13	59	4.151	0.0000968	0.000343	3.18 (15.73)	Down syndrome	Table_S3	Female DS direct comorbidity
B01	Varicella [chickenpox]	19	73	4.609	0.000000566	0.00000185	3.6 (5.71)	Down syndrome	Table_S3	Male DS direct comorbidity
B01	Varicella [chickenpox]	22	51	7.714	0.0000000000201	0.0000000000558	4.18 (4.7)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
B08	Other viral infections characterized by skin and mucous membrane lesions. not elsewhere classified	10	53	3.553	0.00193	0.00537	5.63 (5.3)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
B34	Viral infection of unspecified site	260	1797	2.531	3.02e-37	1e-36	1.95 (8.81)	Down syndrome	Table_S1	Direct comorbidity
B34	Viral infection of unspecified site	31	283	1.825	0.00264	0.0159	4.02 (19.15)	Klinefelter syndrome	Table_S1	Direct comorbidity
B34	Viral infection of unspecified site	20	54	6.793	0.0000000000287	0.0000000000703	2.48 (6.33)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
B34	Viral infection of unspecified site	12	52	4.085	0.0000931	0.000298	1.98 (4.12)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
B34	Viral infection of unspecified site	15	84	3.379	0.0000874	0.000243	1.38 (1.93)	Angelman syndrome	Table_S1	Direct comorbidity
B34	Viral infection of unspecified site	110	787	2.506	2.29e-16	8.11e-16	1.77 (9.07)	Down syndrome	Table_S3	Female DS direct comorbidity
B34	Viral infection of unspecified site	150	992	2.593	4.15e-23	1.36e-22	1.98 (8.62)	Down syndrome	Table_S3	Male DS direct comorbidity
B34	Viral infection of unspecified site	159	753	3.701	3.34994e-41	9.3e-41	1.96 (6.24)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
B35	Dermatophytosis	21	76	4.983	0.000000045	0.000000149	17.71 (17.44)	Down syndrome	Table_S1	Direct comorbidity
B35	Dermatophytosis	16	31	9.059	0.00000000212	0.00000000697	17.62 (17.77)	Down syndrome	Table_S3	Male DS direct comorbidity
B35	Dermatophytosis	13	24	9.767	0.0000000336	0.0000000935	17.53 (11.78)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
B37	Candidiasis	52	278	3.313	0.00000000000539	0.0000000000178	31.81 (25.38)	Down syndrome	Table_S1	Direct comorbidity
B37	Candidiasis	25	144	3.190	0.00000347	0.0000123	31.62 (27.22)	Down syndrome	Table_S3	Female DS direct comorbidity
B37	Candidiasis	27	127	3.730	0.0000000972	0.000000319	35.01 (23.49)	Down syndrome	Table_S3	Male DS direct comorbidity
B37	Candidiasis	19	70	4.913	0.000000225	0.000000625	3.26 (21.48)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
B95	Streptococcus and staphylococcus as the cause of diseases classified to other chapters	5	13	7.475	0.00218	0.00607	7.05 (19.83)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
B96	Other bacterial agents as the cause of diseases classified to other chapters	10	43	4.360	0.000494	0.00163	47.87 (22.79)	Down syndrome	Table_S1	Direct comorbidity
B96	Other bacterial agents as the cause of diseases classified to other chapters	6	16	7.022	0.000986	0.00323	47.29 (22.5)	Down syndrome	Table_S3	Male DS direct comorbidity
B97	Viral agents as the cause of diseases classified to other chapters	8	28	5.412	0.00057	0.00189	0.9 (11.56)	Down syndrome	Table_S1	Direct comorbidity
B97	Viral agents as the cause of diseases classified to other chapters	5	18	5.619	0.00636	0.0225	0.27 (1.71)	Down syndrome	Table_S3	Female DS direct comorbidity
B97	Viral agents as the cause of diseases classified to other chapters	5	15	6.540	0.00361	0.01	0.42 (3.06)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
C34	Malignant neoplasm of bronchus and lung	6	483	0.252	0.00000272	0.00000633	64.81 (7.87)	Down syndrome	Table_S2	Inverse comorbidity
C44	Other malignant neoplasms of skin	6	481	0.253	0.00000264	0.00000615	51.5 (11.95)	Down syndrome	Table_S2	Inverse comorbidity
C50	Malignant neoplasm of breast	9	676	0.258	0.0000000353	0.0000000823	55.07 (14.04)	Down syndrome	Table_S2	Inverse comorbidity
C50	Malignant neoplasm of breast	5	280	0.368	0.00236	0.0101	48.04 (13.66)	Turner syndrome	Table_S2	Inverse comorbidity
C50	Malignant neoplasm of breast	9	719	0.247	0.00000000775	0.0000000204	55.07 (14.04)	Down syndrome	Table_S4	Female DS inverse comorbidity
C62	Malignant neoplasm of testis	13	87	2.774	0.00294	0.00972	35.45 (10.24)	Down syndrome	Table_S1	Direct comorbidity
C62	Malignant neoplasm of testis	13	90	2.623	0.0045	0.0147	35.45 (10.24)	Down syndrome	Table_S3	Male DS direct comorbidity
C91	Lymphoid leukaemia	22	89	4.457	0.000000116	0.000000383	8.32 (15.76)	Down syndrome	Table_S1	Direct comorbidity
C91	Lymphoid leukaemia	15	30	9.183	0.00000000544	0.0000000193	6.66 (11.11)	Down syndrome	Table_S3	Female DS direct comorbidity
C91	Lymphoid leukaemia	12	25	8.721	0.000000313	0.000000869	6.39 (5.27)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
C92	Myeloid leukaemia	20	47	7.629	0.000000000223	0.000000000739	2.86 (13.82)	Down syndrome	Table_S1	Direct comorbidity
C92	Myeloid leukaemia	13	24	9.964	0.0000000277	0.0000000981	2.7 (13.84)	Down syndrome	Table_S3	Female DS direct comorbidity
C92	Myeloid leukaemia	7	27	4.872	0.00226	0.00741	3.11 (13.33)	Down syndrome	Table_S3	Male DS direct comorbidity
C92	Myeloid leukaemia	12	5	37.789	0.00000000000287	0.00000000000797	3.2 (10.99)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
C94	Other leukaemias of specified cell type	6	4	24.414	0.00000439	0.0000145	1.13 (3.28)	Down syndrome	Table_S1	Direct comorbidity
C94	Other leukaemias of specified cell type	5	2	34.105	0.00000987	0.0000324	0.13 (2.22)	Down syndrome	Table_S3	Male DS direct comorbidity
C94	Other leukaemias of specified cell type	5	1	52.323	0.00000264	0.00000734	2.12 (3.33)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
C95	Leukaemia of unspecified cell type	8	12	12.073	0.00000517	0.0000171	1.74 (14.2)	Down syndrome	Table_S1	Direct comorbidity
C95	Leukaemia of unspecified cell type	5	5	17.792	0.0000849	0.000301	2.13 (16.79)	Down syndrome	Table_S3	Female DS direct comorbidity
C95	Leukaemia of unspecified cell type	6	7	15.261	0.0000306	0.0000852	1.74 (3.26)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
D10	Benign neoplasm of mouth and pharynx	22	191	2.089	0.00296	0.00981	39.35 (19.3)	Down syndrome	Table_S1	Direct comorbidity
D10	Benign neoplasm of mouth and pharynx	12	93	2.461	0.0099	0.0351	35.95 (21.05)	Down syndrome	Table_S3	Female DS direct comorbidity
D12	Benign neoplasm of colon. rectum. anus and anal canal	9	1108	0.157	5.69e-17	1.33e-16	56.67 (12.91)	Down syndrome	Table_S2	Inverse comorbidity
D12	Benign neoplasm of colon. rectum. anus and anal canal	5	459	0.232	0.00000187	0.0000049	67.65 (11.29)	Down syndrome	Table_S4	Female DS inverse comorbidity
D22	Melanocytic naevi	24	173	2.477	0.000198	0.000913	21.58 (11.52)	Turner syndrome	Table_S1	Direct comorbidity
D22	Melanocytic naevi	12	456	0.496	0.00392	0.00913	18.32 (12.49)	Down syndrome	Table_S2	Inverse comorbidity
D22	Melanocytic naevi	11	45	4.403	0.000198	0.00141	18.14 (9.89)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
D23	Other benign neoplasms of skin	18	164	2.008	0.00999	0.0278	31.3 (18.98)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
D27	Benign neoplasm of ovary	9	460	0.378	0.000206	0.000481	47.14 (12.48)	Down syndrome	Table_S2	Inverse comorbidity
D27	Benign neoplasm of ovary	9	420	0.423	0.0015	0.00394	47.14 (12.48)	Down syndrome	Table_S4	Female DS inverse comorbidity
D50	Iron deficiency anaemia	17	127	2.424	0.00227	0.0104	38 (17.2)	Turner syndrome	Table_S1	Direct comorbidity
D59	Acquired haemolytic anaemia	10	29	6.394	0.0000322	0.000107	4.53 (17.92)	Down syndrome	Table_S1	Direct comorbidity
D59	Acquired haemolytic anaemia	5	18	5.619	0.00636	0.0225	10.22 (21.67)	Down syndrome	Table_S3	Female DS direct comorbidity
D59	Acquired haemolytic anaemia	5	15	6.395	0.00398	0.0131	3.67 (7.68)	Down syndrome	Table_S3	Male DS direct comorbidity
D59	Acquired haemolytic anaemia	6	13	8.721	0.000366	0.00102	6.46 (15.81)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
D61	Other aplastic anaemias	8	50	3.077	0.0126	0.0418	35.32 (23.9)	Down syndrome	Table_S1	Direct comorbidity
D61	Other aplastic anaemias	6	11	10.379	0.000166	0.00059	14.37 (24.3)	Down syndrome	Table_S3	Female DS direct comorbidity
D62	Acute posthaemorrhagic anaemia	5	18	5.508	0.00685	0.019	24.77 (20.08)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
D64	Other anaemias	20	171	2.105	0.00407	0.0187	54.32 (14.82)	Turner syndrome	Table_S1	Direct comorbidity
D64	Other anaemias	17	131	2.378	0.00274	0.00761	34.37 (22.24)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
D68	Other coagulation defects	9	38	4.154	0.00132	0.00797	42.97 (9.44)	Klinefelter syndrome	Table_S1	Direct comorbidity
D69	Purpura and other haemorrhagic conditions	35	342	1.830	0.0015	0.00497	11.86 (21.85)	Down syndrome	Table_S1	Direct comorbidity
D69	Purpura and other haemorrhagic conditions	19	164	2.157	0.00415	0.0147	11.86 (21.1)	Down syndrome	Table_S3	Female DS direct comorbidity
D69	Purpura and other haemorrhagic conditions	15	106	2.608	0.00227	0.0063	11.65 (17.51)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
D72	Other disorders of white blood cells	12	64	3.488	0.00077	0.00255	7.38 (23.47)	Down syndrome	Table_S1	Direct comorbidity
D72	Other disorders of white blood cells	8	27	5.719	0.000406	0.00144	37.22 (24.54)	Down syndrome	Table_S3	Female DS direct comorbidity
D72	Other disorders of white blood cells	7	10	12.684	0.0000161	0.0000447	11.16 (18.52)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
D75	Other diseases of blood and blood-forming organs	36	79	8.065	2.86e-18	9.48e-18	36.51 (11.34)	Down syndrome	Table_S1	Direct comorbidity
D75	Other diseases of blood and blood-forming organs	6	5	18.901	0.0000134	0.000081	36.4 (14.25)	Klinefelter syndrome	Table_S1	Direct comorbidity
D75	Other diseases of blood and blood-forming organs	22	29	13.641	0.0000000000000028	0.00000000000000994	40.57 (10.52)	Down syndrome	Table_S3	Female DS direct comorbidity
D75	Other diseases of blood and blood-forming organs	14	38	6.559	0.000000583	0.00000191	35.13 (11.28)	Down syndrome	Table_S3	Male DS direct comorbidity
D75	Other diseases of blood and blood-forming organs	5	14	6.976	0.00283	0.00787	38.78 (16.57)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E03	Other hypothyroidism	303	590	8.970	0	0	27.34 (20.33)	Down syndrome	Table_S1	Direct comorbidity
E03	Other hypothyroidism	79	234	5.868	1.39e-31	6.42e-31	35.13 (17.25)	Turner syndrome	Table_S1	Direct comorbidity
E03	Other hypothyroidism	169	483	6.249	0	0	34.4 (20.19)	Down syndrome	Table_S3	Female DS direct comorbidity
E03	Other hypothyroidism	134	92	24.753	0	0	22.16 (20.05)	Down syndrome	Table_S3	Male DS direct comorbidity
E03	Other hypothyroidism	97	122	13.896	0	0	14.79 (16)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E03	Other hypothyroidism	6	10	10.747	0.000105	0.000749	14.71 (5.38)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
E03	Other hypothyroidism	26	63	7.120	0.000000000000557	0.00000000000397	36.52 (13.79)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
E04	Other nontoxic goitre	14	726	0.360	0.00000178	0.00000415	33.41 (17.32)	Down syndrome	Table_S2	Inverse comorbidity
E04	Other nontoxic goitre	10	651	0.300	0.000000644	0.00000169	26.35 (18.15)	Down syndrome	Table_S4	Female DS inverse comorbidity
E05	Thyrotoxicosis [hyperthyroidism]	69	598	2.038	0.000000274	0.000000909	36.42 (16.34)	Down syndrome	Table_S1	Direct comorbidity
E05	Thyrotoxicosis [hyperthyroidism]	30	133	3.945	0.00000000603	0.0000000198	36.54 (15.1)	Down syndrome	Table_S3	Male DS direct comorbidity
E05	Thyrotoxicosis [hyperthyroidism]	20	129	2.817	0.000159	0.000442	18.33 (11.55)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E06	Thyroiditis	34	141	4.298	0.0000000000834	0.000000000276	15.61 (13.24)	Down syndrome	Table_S1	Direct comorbidity
E06	Thyroiditis	20	62	5.746	0.0000000115	0.0000000529	28.9 (11.97)	Turner syndrome	Table_S1	Direct comorbidity
E06	Thyroiditis	16	120	2.500	0.00239	0.00847	15.2 (11.62)	Down syndrome	Table_S3	Female DS direct comorbidity
E06	Thyroiditis	18	26	12.000	0.00000000000566	0.0000000000186	15.95 (14.12)	Down syndrome	Table_S3	Male DS direct comorbidity
E06	Thyroiditis	14	21	11.892	0.00000000136	0.00000000377	15.16 (9.8)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E06	Thyroiditis	10	25	7.140	0.0000124	0.0000883	31.72 (9.09)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
E10	Insulin-dependent diabetes mellitus	91	902	1.777	0.000000927	0.00000307	42.33 (17.27)	Down syndrome	Table_S1	Direct comorbidity
E10	Insulin-dependent diabetes mellitus	32	205	2.595	0.00000681	0.0000412	48.31 (15.24)	Klinefelter syndrome	Table_S1	Direct comorbidity
E10	Insulin-dependent diabetes mellitus	41	166	4.335	0.000000000000469	0.00000000000216	47.35 (16.4)	Turner syndrome	Table_S1	Direct comorbidity
E10	Insulin-dependent diabetes mellitus	35	328	1.947	0.000529	0.00188	44.76 (17.62)	Down syndrome	Table_S3	Female DS direct comorbidity
E10	Insulin-dependent diabetes mellitus	56	551	1.761	0.000139	0.000457	41.33 (16.74)	Down syndrome	Table_S3	Male DS direct comorbidity
E10	Insulin-dependent diabetes mellitus	30	159	3.379	0.000000109	0.000000304	33.52 (18.85)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E10	Insulin-dependent diabetes mellitus	10	27	6.630	0.0000213	0.000152	34.96 (15.25)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
E11	Non-insulin-dependent diabetes mellitus	71	354	3.286	3.1e-16	0.00000000000000187	50.46 (13.97)	Klinefelter syndrome	Table_S1	Direct comorbidity
E11	Non-insulin-dependent diabetes mellitus	60	283	3.702	7.29e-16	0.00000000000000336	54.13 (14.71)	Turner syndrome	Table_S1	Direct comorbidity
E11	Non-insulin-dependent diabetes mellitus	9	43	3.836	0.00195	0.0139	52.69 (5.45)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
E14	Unspecified diabetes mellitus	27	90	4.985	0.000000000437	0.00000000264	53.58 (16.7)	Klinefelter syndrome	Table_S1	Direct comorbidity
E14	Unspecified diabetes mellitus	15	80	3.405	0.00019	0.000877	45.27 (18.84)	Turner syndrome	Table_S1	Direct comorbidity
E14	Unspecified diabetes mellitus	13	71	3.391	0.000556	0.00154	34.24 (16.9)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E15	Nondiabetic hypoglycaemic coma	13	36	6.598	0.00000142	0.0000047	47.48 (11.96)	Down syndrome	Table_S1	Direct comorbidity
E15	Nondiabetic hypoglycaemic coma	10	22	8.155	0.00000552	0.0000181	43.4 (10.93)	Down syndrome	Table_S3	Male DS direct comorbidity
E16	Other disorders of pancreatic internal secretion	53	241	3.891	0.0000000000000135	0.0000000000000448	46.08 (18.88)	Down syndrome	Table_S1	Direct comorbidity
E16	Other disorders of pancreatic internal secretion	16	46	6.235	0.000000143	0.00000066	43.01 (20.55)	Turner syndrome	Table_S1	Direct comorbidity
E16	Other disorders of pancreatic internal secretion	21	105	3.693	0.00000304	0.0000108	43.58 (20.42)	Down syndrome	Table_S3	Female DS direct comorbidity
E16	Other disorders of pancreatic internal secretion	32	151	3.702	0.00000000704	0.0000000231	46.75 (17.69)	Down syndrome	Table_S3	Male DS direct comorbidity
E16	Other disorders of pancreatic internal secretion	20	44	8.139	0.0000000000788	0.000000000219	40.69 (23.36)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E16	Other disorders of pancreatic internal secretion	5	12	7.789	0.00181	0.0129	24.67 (18.39)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
E21	Hyperparathyroidism and other disorders of parathyroid gland	10	32	5.746	0.0000678	0.000312	53.55 (10.49)	Turner syndrome	Table_S1	Direct comorbidity
E23	Hypofunction and other disorders of pituitary gland	11	24	7.777	0.00000269	0.0000162	44.67 (14.33)	Klinefelter syndrome	Table_S1	Direct comorbidity
E23	Hypofunction and other disorders of pituitary gland	20	22	15.738	0.00000000000000765	0.0000000000000353	11.03 (14.74)	Turner syndrome	Table_S1	Direct comorbidity
E23	Hypofunction and other disorders of pituitary gland	7	3	33.753	0.000000156	0.00000111	6.53 (9.98)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
E28	Ovarian dysfunction	36	147	4.309	0.0000000000155	0.0000000000715	19.76 (11.09)	Turner syndrome	Table_S1	Direct comorbidity
E28	Ovarian dysfunction	16	34	8.197	0.00000000451	0.0000000321	16.63 (4.39)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
E29	Testicular dysfunction	111	21	82.478	0	0	36.45 (12.95)	Klinefelter syndrome	Table_S1	Direct comorbidity
E30	Disorders of puberty. not elsewhere classified	10	61	3.058	0.00508	0.0234	11.62 (2.93)	Turner syndrome	Table_S1	Direct comorbidity
E34	Other endocrine disorders	11	51	3.739	0.000781	0.00472	18.85 (18.94)	Klinefelter syndrome	Table_S1	Direct comorbidity
E34	Other endocrine disorders	10	9	18.210	0.0000000103	0.0000000963	15.02 (4.75)	XYY syndrome	Table_S1	Direct comorbidity
E34	Other endocrine disorders	69	70	16.995	0	0	10.7 (5.82)	Turner syndrome	Table_S1	Direct comorbidity
E34	Other endocrine disorders	21	17	20.627	2.28e-17	1.62e-16	8.59 (8.67)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
E34	Other endocrine disorders	11	8	23.333	0.000000000173	0.0000000192	12.03 (3.95)	Turner syndrome	Table_S7	Mosaic TS direct comorbidity
E64	Sequelae of malnutrition and other nutritional deficiencies	28	135	3.719	0.0000000606	0.000000201	13.87 (20.72)	Down syndrome	Table_S1	Direct comorbidity
E64	Sequelae of malnutrition and other nutritional deficiencies	11	68	3.094	0.003	0.0106	15.46 (19.16)	Down syndrome	Table_S3	Female DS direct comorbidity
E64	Sequelae of malnutrition and other nutritional deficiencies	17	54	5.581	0.000000237	0.000000777	12.59 (21.59)	Down syndrome	Table_S3	Male DS direct comorbidity
E64	Sequelae of malnutrition and other nutritional deficiencies	13	27	8.721	0.0000000976	0.000000271	15.15 (15.33)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E66	Obesity	70	255	4.493	2.42e-22	1.46e-21	43.6 (17.06)	Klinefelter syndrome	Table_S1	Direct comorbidity
E66	Obesity	12	83	2.670	0.00481	0.0464	24.08 (19.45)	Fragile X syndrome	Table_S1	Direct comorbidity
E78	Disorders of lipoprotein metabolism and other lipidaemias	38	373	1.689	0.00299	0.018	53.74 (12.25)	Klinefelter syndrome	Table_S1	Direct comorbidity
E78	Disorders of lipoprotein metabolism and other lipidaemias	31	1947	0.286	6.07e-19	1.41e-18	55.69 (14.11)	Down syndrome	Table_S2	Inverse comorbidity
E78	Disorders of lipoprotein metabolism and other lipidaemias	14	750	0.355	0.00000114	0.000003	56.79 (12.34)	Down syndrome	Table_S4	Female DS inverse comorbidity
E78	Disorders of lipoprotein metabolism and other lipidaemias	17	1243	0.247	0.0000000000000115	0.0000000000000292	51.74 (15.11)	Down syndrome	Table_S4	Male DS inverse comorbidity
E78	Disorders of lipoprotein metabolism and other lipidaemias	6	261	0.463	0.0196	0.05	42.42 (17.97)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
E86	Volume depletion	213	908	4.106	0	0	49.1 (26.02)	Down syndrome	Table_S1	Direct comorbidity
E86	Volume depletion	32	227	2.495	0.0000138	0.0000638	31.66 (31.4)	Turner syndrome	Table_S1	Direct comorbidity
E86	Volume depletion	12	20	11.014	0.00000000951	0.0000000233	4.15 (10.14)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
E86	Volume depletion	7	16	7.838	0.000133	0.000428	5.13 (10.84)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
E86	Volume depletion	6	30	4.054	0.00879	0.0245	3.62 (5.72)	Angelman syndrome	Table_S1	Direct comorbidity
E86	Volume depletion	107	476	4.028	8.78e-30	3.12e-29	50.46 (26.22)	Down syndrome	Table_S3	Female DS direct comorbidity
E86	Volume depletion	106	532	3.423	2.33e-24	7.63e-24	47.95 (25.7)	Down syndrome	Table_S3	Male DS direct comorbidity
E86	Volume depletion	69	276	4.407	1.55e-21	4.3e-21	7.82 (24.34)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
E87	Other disorders of fluid. electrolyte and acid-base balance	49	550	1.582	0.00303	0.01	47.86 (24.14)	Down syndrome	Table_S1	Direct comorbidity
E87	Other disorders of fluid. electrolyte and acid-base balance	21	112	3.356	0.0000108	0.0000496	61.54 (17.02)	Turner syndrome	Table_S1	Direct comorbidity
E87	Other disorders of fluid. electrolyte and acid-base balance	17	109	2.854	0.000452	0.00126	17.4 (22.1)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F00	Dementia in Alzheimer's disease	116	73	27.572	0	0	56 (5.52)	Down syndrome	Table_S1	Direct comorbidity
F00	Dementia in Alzheimer's disease	57	31	32.248	0	0	55.66 (5.54)	Down syndrome	Table_S3	Female DS direct comorbidity
F00	Dementia in Alzheimer's disease	59	21	46.506	0	0	56.5 (5.47)	Down syndrome	Table_S3	Male DS direct comorbidity
F00	Dementia in Alzheimer's disease	14	19	13.081	0.00000000053	0.00000000147	58.3 (6.02)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F02	Dementia in other diseases classified elsewhere	14	26	9.688	0.0000000112	0.0000000371	56.38 (11.44)	Down syndrome	Table_S1	Direct comorbidity
F02	Dementia in other diseases classified elsewhere	11	13	14.616	0.0000000185	0.0000000607	55.64 (12.67)	Down syndrome	Table_S3	Male DS direct comorbidity
F03	Unspecified dementia	87	170	8.974	4.2039e-45	1.26117e-44	57.74 (7.08)	Down syndrome	Table_S1	Direct comorbidity
F03	Unspecified dementia	37	82	8.146	5.67e-19	2.01e-18	57.48 (6.64)	Down syndrome	Table_S3	Female DS direct comorbidity
F03	Unspecified dementia	50	83	10.353	1.04e-28	3.4e-28	57.84 (7.34)	Down syndrome	Table_S3	Male DS direct comorbidity
F03	Unspecified dementia	10	32	5.814	0.0000623	0.000173	58.1 (7.5)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F10	Mental and behavioural disorders due to use of alcohol	68	637	1.752	0.0000215	0.00013	28.99 (14.4)	Klinefelter syndrome	Table_S1	Direct comorbidity
F10	Mental and behavioural disorders due to use of alcohol	37	2170	0.305	1.29e-19	3e-19	44.37 (10.95)	Down syndrome	Table_S2	Inverse comorbidity
F10	Mental and behavioural disorders due to use of alcohol	9	369	0.466	0.00558	0.0238	22.35 (17.77)	Turner syndrome	Table_S2	Inverse comorbidity
F10	Mental and behavioural disorders due to use of alcohol	10	618	0.316	0.00000222	0.00000582	46.27 (8.41)	Down syndrome	Table_S4	Female DS inverse comorbidity
F10	Mental and behavioural disorders due to use of alcohol	27	1519	0.314	0.000000000000028	0.0000000000000708	43.94 (11.69)	Down syndrome	Table_S4	Male DS inverse comorbidity
F10	Mental and behavioural disorders due to use of alcohol	7	450	0.308	0.0000248	0.0000633	38.82 (9.16)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
F17	Mental and behavioural disorders due to use of tobacco	7	656	0.212	0.00000000411	0.00000000958	46.37 (7.78)	Down syndrome	Table_S2	Inverse comorbidity
F20	Schizophrenia	12	34	6.018	0.00000831	0.0000502	45.66 (15.01)	Klinefelter syndrome	Table_S1	Direct comorbidity
F32	Depressive episode	5	299	0.356	0.00183	0.00481	53.55 (10.95)	Down syndrome	Table_S4	Female DS inverse comorbidity
F41	Other anxiety disorders	8	350	0.447	0.00467	0.0109	46.91 (13.3)	Down syndrome	Table_S2	Inverse comorbidity
F43	Reaction to severe stress. and adjustment disorders	11	72	2.663	0.00824	0.0498	27.39 (15.18)	Klinefelter syndrome	Table_S1	Direct comorbidity
F50	Eating disorders	26	112	4.167	0.0000000256	0.0000000846	2.38 (12.18)	Down syndrome	Table_S1	Direct comorbidity
F50	Eating disorders	12	44	4.980	0.00004	0.000184	11.76 (15.3)	Turner syndrome	Table_S1	Direct comorbidity
F50	Eating disorders	10	68	2.836	0.00819	0.029	1.07 (11.67)	Down syndrome	Table_S3	Female DS direct comorbidity
F50	Eating disorders	16	29	9.663	0.00000000102	0.00000000333	3.39 (12.45)	Down syndrome	Table_S3	Male DS direct comorbidity
F50	Eating disorders	17	52	5.923	0.000000107	0.000000297	1.28 (4.74)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F70	Mild mental retardation	47	56	14.685	6.23e-32	2.06e-31	47.05 (20.8)	Down syndrome	Table_S1	Direct comorbidity
F70	Mild mental retardation	7	11	10.801	0.0000389	0.000235	18.6 (16.73)	Klinefelter syndrome	Table_S1	Direct comorbidity
F70	Mild mental retardation	5	6	14.775	0.00017	0.000783	61.56 (19.92)	Turner syndrome	Table_S1	Direct comorbidity
F70	Mild mental retardation	13	3	60.392	0.000000000000012	0.000000000000116	8.86 (10.7)	Fragile X syndrome	Table_S1	Direct comorbidity
F70	Mild mental retardation	25	16	27.212	5.19e-22	1.84e-21	49.64 (19.37)	Down syndrome	Table_S3	Female DS direct comorbidity
F70	Mild mental retardation	22	28	13.524	0.0000000000000039	0.0000000000000128	36.21 (20.46)	Down syndrome	Table_S3	Male DS direct comorbidity
F70	Mild mental retardation	10	1	93.903	0.00000000000187	0.0000000000151	11.24 (11.12)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
F70	Mild mental retardation	14	21	11.892	0.00000000136	0.00000000377	11.28 (19.42)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F71	Moderate mental retardation	46	23	34.151	1.52994e-41	5.07999e-41	38.64 (20.32)	Down syndrome	Table_S1	Direct comorbidity
F71	Moderate mental retardation	18	9	33.805	3.1e-17	1.1e-16	49.4 (19.97)	Down syndrome	Table_S3	Female DS direct comorbidity
F71	Moderate mental retardation	28	13	35.323	4.6e-26	1.51e-25	34.39 (19.6)	Down syndrome	Table_S3	Male DS direct comorbidity
F71	Moderate mental retardation	6	2	39.838	0.000000619	0.00000501	42.72 (16.83)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
F71	Moderate mental retardation	11	12	16.099	0.00000000823	0.0000000229	15.41 (12.66)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F72	Severe mental retardation	45	19	40.109	2.57979e-42	8.5297e-42	32.02 (19.04)	Down syndrome	Table_S1	Direct comorbidity
F72	Severe mental retardation	16	12	23.267	0.0000000000000625	0.000000000000222	42.35 (20.12)	Down syndrome	Table_S3	Female DS direct comorbidity
F72	Severe mental retardation	29	15	31.973	2.94e-26	9.64e-26	31.67 (18.27)	Down syndrome	Table_S3	Male DS direct comorbidity
F72	Severe mental retardation	12	7	28.342	0.0000000000211	0.0000000000586	18.59 (8.6)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F73	Profound mental retardation	15	8	31.002	0.0000000000000322	0.000000000000107	55.29 (20.38)	Down syndrome	Table_S1	Direct comorbidity
F73	Profound mental retardation	7	6	20.334	0.00000153	0.00000542	41.69 (19.73)	Down syndrome	Table_S3	Female DS direct comorbidity
F73	Profound mental retardation	8	10	13.952	0.0000023	0.00000754	58.15 (19.21)	Down syndrome	Table_S3	Male DS direct comorbidity
F73	Profound mental retardation	6	4	24.417	0.00000432	0.000012	44.55 (24.83)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F78	Other mental retardation	13	9	24.414	0.0000000000107	0.0000000000354	54.36 (14.52)	Down syndrome	Table_S1	Direct comorbidity
F78	Other mental retardation	5	4	21.351	0.0000444	0.000157	54.9 (21.08)	Down syndrome	Table_S3	Female DS direct comorbidity
F78	Other mental retardation	8	2	51.157	0.00000000353	0.0000000116	53.58 (7.61)	Down syndrome	Table_S3	Male DS direct comorbidity
F79	Unspecified mental retardation	562	87	111.569	0	0	21.43 (20.62)	Down syndrome	Table_S1	Direct comorbidity
F79	Unspecified mental retardation	10	24	7.128	0.0000149	0.00009	24.84 (16.28)	Klinefelter syndrome	Table_S1	Direct comorbidity
F79	Unspecified mental retardation	12	20	10.671	0.0000000546	0.000000252	12.73 (28.11)	Turner syndrome	Table_S1	Direct comorbidity
F79	Unspecified mental retardation	22	2	127.698	8.96e-28	2.87e-27	18.53 (15.33)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
F79	Unspecified mental retardation	33	4	117.333	7.51e-39	7.24e-38	16.66 (16.96)	Fragile X syndrome	Table_S1	Direct comorbidity
F79	Unspecified mental retardation	247	42	102.615	0	0	25.63 (20.82)	Down syndrome	Table_S3	Female DS direct comorbidity
F79	Unspecified mental retardation	315	48	109.970	0	0	19.38 (20.43)	Down syndrome	Table_S3	Male DS direct comorbidity
F79	Unspecified mental retardation	29	5	85.367	3.42e-33	2.77e-32	21.35 (17.25)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
F79	Unspecified mental retardation	227	34	113.616	0	0	9.22 (15.66)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F79	Unspecified mental retardation	12	4	43.911	0.000000000000339	0.00000000000242	34.8 (22.13)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
F79	Unspecified mental retardation	5	7	12.657	0.000291	0.00207	4.39 (6.89)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
F80	Specific developmental disorders of speech and language	10	45	4.170	0.000671	0.00222	9.49 (13.15)	Down syndrome	Table_S1	Direct comorbidity
F80	Specific developmental disorders of speech and language	5	11	8.896	0.00112	0.00399	9.78 (11.69)	Down syndrome	Table_S3	Female DS direct comorbidity
F80	Specific developmental disorders of speech and language	7	24	5.581	0.00112	0.00311	8.15 (13.09)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F84	Pervasive developmental disorders	32	87	6.540	0.000000000000026	0.000000000000086	11.91 (14.47)	Down syndrome	Table_S1	Direct comorbidity
F84	Pervasive developmental disorders	5	7	12.928	0.000278	0.00128	8.44 (2.64)	Turner syndrome	Table_S1	Direct comorbidity
F84	Pervasive developmental disorders	21	3	94.901	1.75e-24	1.68e-23	6.36 (15.54)	Fragile X syndrome	Table_S1	Direct comorbidity
F84	Pervasive developmental disorders	27	84	5.617	0.0000000000508	0.000000000167	11.48 (14.3)	Down syndrome	Table_S3	Male DS direct comorbidity
F84	Pervasive developmental disorders	18	7	40.549	2.38e-18	1.92e-17	6.2 (12.89)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
F84	Pervasive developmental disorders	18	50	6.498	0.0000000134	0.0000000372	11.21 (4.62)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F89	Unspecified disorder of psychological development	5	9	10.463	0.000618	0.00205	35.18 (15)	Down syndrome	Table_S1	Direct comorbidity
F90	Hyperkinetic disorders	6	11	10.065	0.000178	0.00172	4.84 (4.06)	Fragile X syndrome	Table_S1	Direct comorbidity
F90	Hyperkinetic disorders	5	7	12.805	0.000265	0.00214	4.74 (3.97)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
F98	Other behavioural and emotional disorders with onset usually occurring in childhood and adolescence	26	183	2.559	0.0000729	0.000241	1.8 (10.6)	Down syndrome	Table_S1	Direct comorbidity
F98	Other behavioural and emotional disorders with onset usually occurring in childhood and adolescence	9	36	4.659	0.00063	0.0029	7.7 (4.26)	Turner syndrome	Table_S1	Direct comorbidity
F98	Other behavioural and emotional disorders with onset usually occurring in childhood and adolescence	12	69	3.304	0.00115	0.00407	1.63 (3.62)	Down syndrome	Table_S3	Female DS direct comorbidity
F98	Other behavioural and emotional disorders with onset usually occurring in childhood and adolescence	14	103	2.459	0.0053	0.0174	2.96 (13.63)	Down syndrome	Table_S3	Male DS direct comorbidity
F98	Other behavioural and emotional disorders with onset usually occurring in childhood and adolescence	15	118	2.345	0.0056	0.0156	2.63 (4.34)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
F99	Mental disorder. not otherwise specified	7	26	4.800	0.00244	0.0147	31.27 (17.66)	Klinefelter syndrome	Table_S1	Direct comorbidity
G25	Other extrapyramidal and movement disorders	8	16	8.577	0.0000395	0.000239	40.57 (14.28)	Klinefelter syndrome	Table_S1	Direct comorbidity
G30	Alzheimer's disease	139	56	42.832	0	0	54.71 (6.98)	Down syndrome	Table_S1	Direct comorbidity
G30	Alzheimer's disease	68	21	55.803	0	0	55.7 (6.6)	Down syndrome	Table_S3	Female DS direct comorbidity
G30	Alzheimer's disease	71	20	58.465	0	0	54.2 (7.3)	Down syndrome	Table_S3	Male DS direct comorbidity
G30	Alzheimer's disease	17	9	31.394	5.11e-16	0.00000000000000142	53.31 (6.36)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
G31	Other degenerative diseases of nervous system. not elsewhere classified	15	72	3.822	0.0000643	0.000213	52.55 (14.32)	Down syndrome	Table_S1	Direct comorbidity
G31	Other degenerative diseases of nervous system. not elsewhere classified	5	20	5.083	0.00919	0.0326	55.93 (3.99)	Down syndrome	Table_S3	Female DS direct comorbidity
G31	Other degenerative diseases of nervous system. not elsewhere classified	10	38	4.810	0.000249	0.000816	50.14 (16.67)	Down syndrome	Table_S3	Male DS direct comorbidity
G40	Epilepsy	6	24	4.957	0.00358	0.018	14.36 (8.57)	Patau syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	10	52	3.753	0.00111	0.00538	13.38 (12.2)	Edwards syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	643	1065	10.535	0	0	51.96 (18.2)	Down syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	54	268	3.312	0.00000000000113	0.00000000000682	25.08 (18.93)	Klinefelter syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	33	229	2.548	0.00000677	0.0000312	32.21 (20.18)	Turner syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	19	6	50.836	1.2e-21	2.93e-21	6.54 (15.18)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	11	18	10.520	0.0000000921	0.000000295	19.15 (13.82)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	51	17	51.859	0	0	5.56 (14.58)	Angelman syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	30	51	10.287	1.78e-18	1.71e-17	12.7 (19.96)	Fragile X syndrome	Table_S1	Direct comorbidity
G40	Epilepsy	301	491	10.921	0	0	52.44 (17.54)	Down syndrome	Table_S3	Female DS direct comorbidity
G40	Epilepsy	342	670	8.717	0	0	50.27 (18.69)	Down syndrome	Table_S3	Male DS direct comorbidity
G40	Epilepsy	26	48	9.408	0.00000000000000126	0.0000000000000102	11.67 (20.92)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
G40	Epilepsy	130	307	7.418	0	0	33.94 (22.82)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
G40	Epilepsy	9	14	11.259	0.00000102	0.00000729	51.96 (20.55)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
G41	Status epilepticus	17	63	4.905	0.00000111	0.00000368	50.49 (18.04)	Down syndrome	Table_S1	Direct comorbidity
G41	Status epilepticus	6	1	62.274	0.0000000929	0.000000228	1.47 (3.83)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
G41	Status epilepticus	5	3	25.882	0.0000221	0.000213	29.09 (18.19)	Fragile X syndrome	Table_S1	Direct comorbidity
G41	Status epilepticus	7	31	4.448	0.0035	0.0124	52.99 (18.11)	Down syndrome	Table_S3	Female DS direct comorbidity
G41	Status epilepticus	10	51	3.607	0.00179	0.00586	38.36 (17.49)	Down syndrome	Table_S3	Male DS direct comorbidity
G41	Status epilepticus	7	21	6.342	0.00058	0.00161	27.04 (19.1)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
G43	Migraine	22	105	3.515	0.00000349	0.0000211	23.74 (15.77)	Klinefelter syndrome	Table_S1	Direct comorbidity
G43	Migraine	7	312	0.441	0.0059	0.0252	14.6 (13.84)	Turner syndrome	Table_S2	Inverse comorbidity
G44	Other headache syndromes	19	114	2.818	0.000236	0.00143	36.85 (10.49)	Klinefelter syndrome	Table_S1	Direct comorbidity
G45	Transient cerebral ischaemic attacks and related syndromes	14	670	0.390	0.0000181	0.0000421	57.41 (13.9)	Down syndrome	Table_S2	Inverse comorbidity
G45	Transient cerebral ischaemic attacks and related syndromes	8	398	0.385	0.000625	0.00158	53.96 (10.08)	Down syndrome	Table_S4	Male DS inverse comorbidity
G47	Sleep disorders	103	1136	1.595	0.0000137	0.0000453	20.04 (17.02)	Down syndrome	Table_S1	Direct comorbidity
G47	Sleep disorders	42	303	2.292	0.00000402	0.0000243	46.03 (11.83)	Klinefelter syndrome	Table_S1	Direct comorbidity
G47	Sleep disorders	6	4	24.909	0.00000247	0.00000606	6.59 (3.66)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
G47	Sleep disorders	35	289	2.209	0.0000593	0.00021	23.72 (18.61)	Down syndrome	Table_S3	Female DS direct comorbidity
G47	Sleep disorders	68	757	1.552	0.000734	0.00241	16.65 (15.94)	Down syndrome	Table_S3	Male DS direct comorbidity
G47	Sleep disorders	41	191	3.815	0.0000000000172	0.0000000000479	9.24 (15.39)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
G54	Nerve root and plexus disorders	5	19	5.171	0.00864	0.0398	52.37 (22.71)	Turner syndrome	Table_S1	Direct comorbidity
G56	Mononeuropathies of upper limb	38	251	2.507	0.00000184	0.0000111	43.47 (11.82)	Klinefelter syndrome	Table_S1	Direct comorbidity
G56	Mononeuropathies of upper limb	34	1536	0.397	0.000000000129	0.000000000299	41.93 (15.27)	Down syndrome	Table_S2	Inverse comorbidity
G56	Mononeuropathies of upper limb	10	425	0.445	0.00177	0.00757	53.63 (11.7)	Turner syndrome	Table_S2	Inverse comorbidity
G56	Mononeuropathies of upper limb	19	893	0.398	0.00000128	0.00000335	42.37 (11.66)	Down syndrome	Table_S4	Female DS inverse comorbidity
G56	Mononeuropathies of upper limb	15	618	0.441	0.000144	0.000364	30.76 (18.42)	Down syndrome	Table_S4	Male DS inverse comorbidity
G80	Cerebral palsy	5	4	21.243	0.0000361	0.000181	12.99 (2.83)	Patau syndrome	Table_S1	Direct comorbidity
G80	Cerebral palsy	6	12	9.738	0.000197	0.00095	8.95 (5.8)	Edwards syndrome	Table_S1	Direct comorbidity
G80	Cerebral palsy	62	131	8.323	4.27e-31	1.42e-30	10 (14.63)	Down syndrome	Table_S1	Direct comorbidity
G80	Cerebral palsy	6	26	4.469	0.00704	0.0324	10.1 (4.72)	Turner syndrome	Table_S1	Direct comorbidity
G80	Cerebral palsy	10	3	48.929	0.0000000000134	0.0000000000328	10.35 (5.58)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
G80	Cerebral palsy	6	3	29.148	0.00000162	0.00000519	2.84 (2.78)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
G80	Cerebral palsy	17	2	107.707	3.62e-21	1.01e-20	10.7 (15.4)	Angelman syndrome	Table_S1	Direct comorbidity
G80	Cerebral palsy	9	10	15.686	0.000000199	0.00000192	4.97 (4.5)	Fragile X syndrome	Table_S1	Direct comorbidity
G80	Cerebral palsy	26	58	8.142	0.000000000000105	0.000000000000374	9.98 (17)	Down syndrome	Table_S3	Female DS direct comorbidity
G80	Cerebral palsy	36	93	6.712	3.03e-16	9.95e-16	10 (12.44)	Down syndrome	Table_S3	Male DS direct comorbidity
G80	Cerebral palsy	7	8	15.176	0.00000564	0.0000457	5.75 (4.9)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
G80	Cerebral palsy	36	75	8.491	5.4e-19	1.5e-18	6.71 (8.07)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
G81	Hemiplegia	13	62	3.875	0.000183	0.000607	14.71 (15.61)	Down syndrome	Table_S1	Direct comorbidity
G81	Hemiplegia	10	37	4.936	0.000207	0.00068	18.93 (16.86)	Down syndrome	Table_S3	Male DS direct comorbidity
G82	Paraplegia and tetraplegia	5	5	18.085	0.0000723	0.000349	14.91 (6.03)	Edwards syndrome	Table_S1	Direct comorbidity
G82	Paraplegia and tetraplegia	17	145	2.150	0.00711	0.0235	27.04 (18.48)	Down syndrome	Table_S1	Direct comorbidity
G90	Disorders of autonomic nervous system	65	59	19.183	0	0	11.51 (24.19)	Down syndrome	Table_S1	Direct comorbidity
G90	Disorders of autonomic nervous system	22	25	15.739	3.27e-16	0.00000000000000116	7.01 (19.68)	Down syndrome	Table_S3	Female DS direct comorbidity
G90	Disorders of autonomic nervous system	43	21	34.105	7.42e-39	2.43e-38	18.26 (25.45)	Down syndrome	Table_S3	Male DS direct comorbidity
G90	Disorders of autonomic nervous system	33	12	45.615	1.52e-32	4.23e-32	5.86 (20.88)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
G91	Hydrocephalus	14	6	38.753	0.0000000000000181	0.0000000000000873	4.01 (13.52)	Edwards syndrome	Table_S1	Direct comorbidity
G96	Other disorders of central nervous system	54	381	2.511	0.0000000157	0.000000052	48.38 (18.58)	Down syndrome	Table_S1	Direct comorbidity
G96	Other disorders of central nervous system	12	89	2.490	0.00902	0.0416	20.43 (23.94)	Turner syndrome	Table_S1	Direct comorbidity
G96	Other disorders of central nervous system	6	2	41.886	0.000000406	0.00000113	3.16 (14.13)	Angelman syndrome	Table_S1	Direct comorbidity
G96	Other disorders of central nervous system	6	11	10.065	0.000178	0.00172	36.84 (25.46)	Fragile X syndrome	Table_S1	Direct comorbidity
G96	Other disorders of central nervous system	35	210	2.909	0.000000273	0.000000894	48.92 (19.81)	Down syndrome	Table_S3	Male DS direct comorbidity
G96	Other disorders of central nervous system	6	8	13.279	0.0000504	0.000408	36.84 (25.46)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
G96	Other disorders of central nervous system	14	95	2.725	0.00224	0.00624	19.92 (17.02)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
G98	Other disorders of nervous system. not elsewhere classified	5	3	26.927	0.0000161	0.0000447	3.92 (3.72)	Angelman syndrome	Table_S1	Direct comorbidity
H00	Hordeolum and chalazion	24	241	1.802	0.0101	0.0334	19.34 (14.49)	Down syndrome	Table_S1	Direct comorbidity
H00	Hordeolum and chalazion	16	125	2.301	0.00507	0.0166	19.86 (16.28)	Down syndrome	Table_S3	Male DS direct comorbidity
H00	Hordeolum and chalazion	11	84	2.462	0.0136	0.0377	13.24 (9.8)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H01	Other inflammation of eyelid	50	104	8.470	1.32e-25	4.36e-25	33.13 (20.32)	Down syndrome	Table_S1	Direct comorbidity
H01	Other inflammation of eyelid	5	19	5.171	0.00864	0.0398	46.74 (22.01)	Turner syndrome	Table_S1	Direct comorbidity
H01	Other inflammation of eyelid	19	53	6.590	0.00000000433	0.0000000154	39.79 (22.74)	Down syndrome	Table_S3	Female DS direct comorbidity
H01	Other inflammation of eyelid	31	53	10.105	4.57e-18	1.5e-17	23.27 (18.47)	Down syndrome	Table_S3	Male DS direct comorbidity
H01	Other inflammation of eyelid	21	25	14.758	0.00000000000000396	0.000000000000011	13.3 (14.64)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H02	Other disorders of eyelid	14	103	2.486	0.00472	0.0217	41.18 (19.5)	Turner syndrome	Table_S1	Direct comorbidity
H02	Other disorders of eyelid	24	219	1.938	0.00449	0.0147	28.35 (21.14)	Down syndrome	Table_S3	Male DS direct comorbidity
H02	Other disorders of eyelid	13	82	2.942	0.00179	0.00498	25.16 (17.46)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H04	Disorders of lacrimal system	78	132	10.358	5.46506e-44	1.79366e-43	7.7 (16.51)	Down syndrome	Table_S1	Direct comorbidity
H04	Disorders of lacrimal system	44	82	9.646	1.26e-24	4.48e-24	8.47 (17.46)	Down syndrome	Table_S3	Female DS direct comorbidity
H04	Disorders of lacrimal system	34	63	9.325	7.44e-19	2.44e-18	6.83 (15.13)	Down syndrome	Table_S3	Male DS direct comorbidity
H04	Disorders of lacrimal system	36	33	18.980	1.35e-27	3.75e-27	4.66 (5.21)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H05	Disorders of orbit	8	44	3.558	0.00584	0.0207	31.2 (19.25)	Down syndrome	Table_S3	Female DS direct comorbidity
H10	Conjunctivitis	117	1285	1.600	0.00000309	0.0000102	17.51 (21.77)	Down syndrome	Table_S1	Direct comorbidity
H10	Conjunctivitis	6	14	8.303	0.000306	0.000751	3.31 (3.25)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
H10	Conjunctivitis	58	485	2.160	0.000000391	0.00000139	15.85 (21.87)	Down syndrome	Table_S3	Female DS direct comorbidity
H10	Conjunctivitis	45	334	2.395	0.000000643	0.00000179	4.15 (16.07)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H11	Other disorders of conjunctiva	25	208	2.169	0.000945	0.00313	47.84 (16.8)	Down syndrome	Table_S1	Direct comorbidity
H11	Other disorders of conjunctiva	13	103	2.395	0.00874	0.031	43.13 (19.49)	Down syndrome	Table_S3	Female DS direct comorbidity
H16	Keratitis	49	296	2.936	0.000000000861	0.00000000285	49.3 (13.71)	Down syndrome	Table_S1	Direct comorbidity
H16	Keratitis	23	127	3.336	0.00000456	0.0000162	46.11 (13.42)	Down syndrome	Table_S3	Female DS direct comorbidity
H16	Keratitis	26	163	2.807	0.0000176	0.0000576	51.54 (13.95)	Down syndrome	Table_S3	Male DS direct comorbidity
H17	Corneal scars and opacities	8	41	3.737	0.00455	0.0151	43.47 (16.78)	Down syndrome	Table_S1	Direct comorbidity
H17	Corneal scars and opacities	6	20	5.684	0.00252	0.00825	37.24 (15.47)	Down syndrome	Table_S3	Male DS direct comorbidity
H18	Other disorders of cornea	124	147	14.729	0	0	42.69 (13.62)	Down syndrome	Table_S1	Direct comorbidity
H18	Other disorders of cornea	8	29	5.171	0.000727	0.00335	31.72 (15.38)	Turner syndrome	Table_S1	Direct comorbidity
H18	Other disorders of cornea	56	87	11.524	4.8e-34	1.7e-33	45.28 (13.74)	Down syndrome	Table_S3	Female DS direct comorbidity
H18	Other disorders of cornea	68	103	11.314	2.00999e-40	6.6e-40	40.31 (13.47)	Down syndrome	Table_S3	Male DS direct comorbidity
H18	Other disorders of cornea	22	32	12.156	0.0000000000000164	0.0000000000000456	27.7 (15.89)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H19	Disorders of sclera and cornea in diseases classified elsewhere	48	53	15.824	1.29e-33	4.27e-33	42.76 (11.25)	Down syndrome	Table_S1	Direct comorbidity
H19	Disorders of sclera and cornea in diseases classified elsewhere	26	29	16.013	4.79e-19	1.7e-18	42.52 (10.17)	Down syndrome	Table_S3	Female DS direct comorbidity
H19	Disorders of sclera and cornea in diseases classified elsewhere	22	28	13.524	0.0000000000000039	0.0000000000000128	43.2 (12.36)	Down syndrome	Table_S3	Male DS direct comorbidity
H19	Disorders of sclera and cornea in diseases classified elsewhere	11	16	12.311	0.000000065	0.000000181	35.1 (9.94)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H25	Senile cataract	303	1600	3.311	0	0	51.99 (12.19)	Down syndrome	Table_S1	Direct comorbidity
H25	Senile cataract	29	229	2.113	0.000482	0.00291	64.2 (11.53)	Klinefelter syndrome	Table_S1	Direct comorbidity
H25	Senile cataract	54	331	2.856	0.000000000165	0.000000000761	60.59 (9.57)	Turner syndrome	Table_S1	Direct comorbidity
H25	Senile cataract	152	904	3.008	1.39e-29	4.93e-29	51.45 (12.02)	Down syndrome	Table_S3	Female DS direct comorbidity
H25	Senile cataract	151	727	3.560	4.07e-36	1.34e-35	52.77 (12.36)	Down syndrome	Table_S3	Male DS direct comorbidity
H25	Senile cataract	43	241	3.171	0.000000000921	0.00000000256	50.29 (16.71)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H25	Senile cataract	6	16	6.954	0.000757	0.00539	51.21 (16.9)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
H26	Other cataract	381	549	12.112	0	0	44.38 (14.72)	Down syndrome	Table_S1	Direct comorbidity
H26	Other cataract	26	105	4.391	0.00000000854	0.0000000394	50.57 (15.81)	Turner syndrome	Table_S1	Direct comorbidity
H26	Other cataract	202	255	14.109	0	0	43.79 (14.72)	Down syndrome	Table_S3	Female DS direct comorbidity
H26	Other cataract	179	264	11.583	0	0	45.07 (14.71)	Down syndrome	Table_S3	Male DS direct comorbidity
H26	Other cataract	78	84	16.210	0	0	26.67 (16.53)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H26	Other cataract	5	4	20.267	0.0000429	0.000305	32.37 (22.58)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
H27	Other disorders of lens	25	58	7.685	0.00000000000103	0.00000000000342	40.43 (17.08)	Down syndrome	Table_S1	Direct comorbidity
H27	Other disorders of lens	16	17	16.804	0.00000000000186	0.0000000000066	38.84 (15.11)	Down syndrome	Table_S3	Female DS direct comorbidity
H27	Other disorders of lens	9	29	5.684	0.00018	0.000592	40.95 (20.05)	Down syndrome	Table_S3	Male DS direct comorbidity
H31	Other disorders of choroid	6	21	5.549	0.00279	0.00923	40.46 (14.51)	Down syndrome	Table_S1	Direct comorbidity
H33	Retinal detachments and breaks	10	62	3.010	0.00562	0.0259	55.6 (14.13)	Turner syndrome	Table_S1	Direct comorbidity
H36	Retinal disorders in diseases classified elsewhere	18	54	5.955	0.0000000409	0.000000188	46.03 (12.35)	Turner syndrome	Table_S1	Direct comorbidity
H36	Retinal disorders in diseases classified elsewhere	11	47	4.360	0.000242	0.000674	40.75 (16.22)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H40	Glaucoma	15	53	5.107	0.00000304	0.000014	50.39 (13.36)	Turner syndrome	Table_S1	Direct comorbidity
H43	Disorders of vitreous body	10	55	3.386	0.00265	0.0122	57.92 (6.24)	Turner syndrome	Table_S1	Direct comorbidity
H43	Disorders of vitreous body	5	308	0.339	0.00101	0.00234	31.56 (18.8)	Down syndrome	Table_S2	Inverse comorbidity
H44	Disorders of globe	77	115	11.726	0	1.4013e-45	42.37 (16.55)	Down syndrome	Table_S1	Direct comorbidity
H44	Disorders of globe	41	57	12.884	1.23e-26	4.37e-26	40.38 (18.16)	Down syndrome	Table_S3	Female DS direct comorbidity
H44	Disorders of globe	36	65	9.560	3.68e-20	1.21e-19	45.1 (14.18)	Down syndrome	Table_S3	Male DS direct comorbidity
H44	Disorders of globe	16	19	14.825	0.00000000000745	0.0000000000207	28.73 (17.29)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H47	Other disorders of optic [2nd] nerve and visual pathways	27	110	4.399	0.00000000506	0.0000000167	16.73 (19.05)	Down syndrome	Table_S1	Direct comorbidity
H47	Other disorders of optic [2nd] nerve and visual pathways	6	1	62.274	0.0000000929	0.000000228	5.5 (5.1)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
H47	Other disorders of optic [2nd] nerve and visual pathways	6	1	62.829	0.000000106	0.000000295	8.55 (12.78)	Angelman syndrome	Table_S1	Direct comorbidity
H47	Other disorders of optic [2nd] nerve and visual pathways	13	39	6.227	0.00000234	0.00000828	12.13 (22.21)	Down syndrome	Table_S3	Female DS direct comorbidity
H47	Other disorders of optic [2nd] nerve and visual pathways	14	58	4.335	0.0000348	0.000114	16.91 (15.31)	Down syndrome	Table_S3	Male DS direct comorbidity
H47	Other disorders of optic [2nd] nerve and visual pathways	9	35	4.845	0.000492	0.00137	11.52 (13.22)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H49	Paralytic strabismus	6	14	8.044	0.000527	0.00243	21.01 (23.16)	Turner syndrome	Table_S1	Direct comorbidity
H49	Paralytic strabismus	5	19	5.232	0.00827	0.023	3.7 (2.65)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H50	Other strabismus	11	31	6.782	0.0000056	0.000027	2.08 (3.39)	Edwards syndrome	Table_S1	Direct comorbidity
H50	Other strabismus	372	529	12.273	0	0	8.98 (18.61)	Down syndrome	Table_S1	Direct comorbidity
H50	Other strabismus	33	144	4.042	0.000000000478	0.0000000022	10.82 (16.98)	Turner syndrome	Table_S1	Direct comorbidity
H50	Other strabismus	18	12	24.344	8.73e-17	2.8e-16	8.72 (16.69)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
H50	Other strabismus	24	14	29.919	1.9e-23	5.3e-23	3.93 (10.85)	Angelman syndrome	Table_S1	Direct comorbidity
H50	Other strabismus	15	44	6.135	0.000000303	0.00000292	13.8 (14.63)	Fragile X syndrome	Table_S1	Direct comorbidity
H50	Other strabismus	187	232	14.356	0	0	9.59 (19.62)	Down syndrome	Table_S3	Female DS direct comorbidity
H50	Other strabismus	185	268	11.791	0	0	8.98 (17.38)	Down syndrome	Table_S3	Male DS direct comorbidity
H50	Other strabismus	14	29	8.537	0.000000023	0.000000186	10.52 (15.14)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
H50	Other strabismus	151	204	12.932	0	0	6.08 (8.78)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H50	Other strabismus	10	9	18.578	0.00000000672	0.0000000479	6.92 (21.68)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
H50	Other strabismus	18	55	5.726	0.0000000474	0.000000337	6.56 (9.9)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H52	Disorders of refraction and accommodation	848	832	17.774	0	0	11.35 (18.41)	Down syndrome	Table_S1	Direct comorbidity
H52	Disorders of refraction and accommodation	5	14	7.206	0.002	0.0222	13.21 (8.69)	Triple X syndrome	Table_S1	Direct comorbidity
H52	Disorders of refraction and accommodation	43	234	3.227	0.00000000053	0.00000000244	14.74 (19.24)	Turner syndrome	Table_S1	Direct comorbidity
H52	Disorders of refraction and accommodation	11	13	15.251	0.00000000333	0.00000000817	3.56 (6.08)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
H52	Disorders of refraction and accommodation	17	20	14.277	0.000000000000286	0.000000000000916	20.79 (17.47)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
H52	Disorders of refraction and accommodation	26	14	32.312	6.14e-26	1.71e-25	3.73 (14.16)	Angelman syndrome	Table_S1	Direct comorbidity
H52	Disorders of refraction and accommodation	39	45	15.004	2.18e-28	2.1e-27	14.31 (18.14)	Fragile X syndrome	Table_S1	Direct comorbidity
H52	Disorders of refraction and accommodation	382	388	17.518	0	0	11.38 (18.53)	Down syndrome	Table_S3	Female DS direct comorbidity
H52	Disorders of refraction and accommodation	466	416	19.097	0	0	11.35 (18.31)	Down syndrome	Table_S3	Male DS direct comorbidity
H52	Disorders of refraction and accommodation	34	30	19.276	1.11e-27	8.95e-27	16.11 (18.73)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
H52	Disorders of refraction and accommodation	384	234	28.574	0	0	9.02 (12.87)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H52	Disorders of refraction and accommodation	14	15	15.833	0.0000000000177	0.000000000126	7.58 (21.67)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
H52	Disorders of refraction and accommodation	24	70	5.942	0.000000000109	0.000000000774	10.49 (15.17)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H53	Visual disturbances	68	452	2.656	0.0000000000237	0.0000000000786	11.85 (20.67)	Down syndrome	Table_S1	Direct comorbidity
H53	Visual disturbances	17	113	2.722	0.000727	0.00335	27.97 (23.87)	Turner syndrome	Table_S1	Direct comorbidity
H53	Visual disturbances	40	220	3.301	0.00000000149	0.00000000527	16.75 (21.77)	Down syndrome	Table_S3	Female DS direct comorbidity
H53	Visual disturbances	28	217	2.268	0.000236	0.000773	10.19 (18.49)	Down syndrome	Table_S3	Male DS direct comorbidity
H53	Visual disturbances	31	114	4.853	0.0000000000355	0.0000000000987	7.98 (13.05)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H53	Visual disturbances	8	33	4.467	0.00155	0.0111	14.4 (15.94)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H54	Blindness and low vision	5	6	15.501	0.000127	0.000613	2.02 (7.3)	Edwards syndrome	Table_S1	Direct comorbidity
H54	Blindness and low vision	66	115	10.072	7.24e-37	2.4e-36	23.75 (22.6)	Down syndrome	Table_S1	Direct comorbidity
H54	Blindness and low vision	8	23	6.464	0.000199	0.000917	23.99 (24.02)	Turner syndrome	Table_S1	Direct comorbidity
H54	Blindness and low vision	6	1	62.829	0.000000106	0.000000295	0.54 (14.21)	Angelman syndrome	Table_S1	Direct comorbidity
H54	Blindness and low vision	31	60	9.334	2.07e-17	7.35e-17	14.54 (21.98)	Down syndrome	Table_S3	Female DS direct comorbidity
H54	Blindness and low vision	35	66	9.162	3.5e-19	1.15e-18	27 (22.77)	Down syndrome	Table_S3	Male DS direct comorbidity
H54	Blindness and low vision	23	33	12.311	0.00000000000000334	0.0000000000000093	9.82 (14.3)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H55	Nystagmus and other irregular eye movements	117	29	68.593	0	0	9.82 (17.47)	Down syndrome	Table_S1	Direct comorbidity
H55	Nystagmus and other irregular eye movements	6	1	62.829	0.000000106	0.000000295	2.82 (2.24)	Angelman syndrome	Table_S1	Direct comorbidity
H55	Nystagmus and other irregular eye movements	64	12	88.961	0	0	11.91 (18.2)	Down syndrome	Table_S3	Female DS direct comorbidity
H55	Nystagmus and other irregular eye movements	53	19	46.041	0	0	8.23 (16.18)	Down syndrome	Table_S3	Male DS direct comorbidity
H55	Nystagmus and other irregular eye movements	44	18	41.308	5.71029e-42	1.59005e-41	8.44 (13.13)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H57	Other disorders of eye and adnexa	82	387	3.730	6.85e-21	2.27e-20	6.04 (19.12)	Down syndrome	Table_S1	Direct comorbidity
H57	Other disorders of eye and adnexa	8	17	8.627	0.0000321	0.000309	11.58 (19.34)	Fragile X syndrome	Table_S1	Direct comorbidity
H57	Other disorders of eye and adnexa	39	178	3.976	0.000000000021	0.0000000000746	6.26 (19.23)	Down syndrome	Table_S3	Female DS direct comorbidity
H57	Other disorders of eye and adnexa	43	217	3.442	0.000000000125	0.00000000041	5.04 (19)	Down syndrome	Table_S3	Male DS direct comorbidity
H57	Other disorders of eye and adnexa	33	94	6.242	0.0000000000000231	0.0000000000000643	6.26 (11.27)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H59	Postprocedural disorders of eye and adnexa. not elsewhere classified	10	18	10.096	0.00000115	0.00000381	45.38 (14.18)	Down syndrome	Table_S1	Direct comorbidity
H59	Postprocedural disorders of eye and adnexa. not elsewhere classified	6	5	20.757	0.00000819	0.000029	47.07 (10.6)	Down syndrome	Table_S3	Female DS direct comorbidity
H60	Otitis externa	79	312	4.457	3.02e-24	9.99e-24	32.76 (16.64)	Down syndrome	Table_S1	Direct comorbidity
H60	Otitis externa	17	83	3.694	0.0000276	0.000127	24.77 (19.23)	Turner syndrome	Table_S1	Direct comorbidity
H60	Otitis externa	38	141	4.887	0.000000000000182	0.000000000000645	33.32 (16.5)	Down syndrome	Table_S3	Female DS direct comorbidity
H60	Otitis externa	41	165	4.314	0.000000000000761	0.0000000000025	28.74 (16.78)	Down syndrome	Table_S3	Male DS direct comorbidity
H60	Otitis externa	25	84	5.335	0.000000000582	0.00000000162	18.46 (16.25)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H61	Other disorders of external ear	177	145	21.261	0	0	31.18 (17.83)	Down syndrome	Table_S1	Direct comorbidity
H61	Other disorders of external ear	14	30	8.341	0.000000048	0.000000221	16.34 (17.78)	Turner syndrome	Table_S1	Direct comorbidity
H61	Other disorders of external ear	6	6	17.255	0.0000168	0.000162	4.18 (7.5)	Fragile X syndrome	Table_S1	Direct comorbidity
H61	Other disorders of external ear	80	71	20.016	0	0	32.6 (18.61)	Down syndrome	Table_S3	Female DS direct comorbidity
H61	Other disorders of external ear	97	86	19.208	0	0	29.89 (17.16)	Down syndrome	Table_S3	Male DS direct comorbidity
H61	Other disorders of external ear	70	37	32.587	0	0	11.92 (16.67)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H61	Other disorders of external ear	6	5	19.689	0.0000101	0.0000717	14.66 (12.75)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H62	Disorders of external ear in diseases classified elsewhere	6	15	7.629	0.000676	0.00224	28.32 (22.29)	Down syndrome	Table_S1	Direct comorbidity
H65	Nonsuppurative otitis media	15	103	2.782	0.000951	0.00459	2.31 (7.75)	Edwards syndrome	Table_S1	Direct comorbidity
H65	Nonsuppurative otitis media	692	1265	9.546	0	0	5.62 (11.91)	Down syndrome	Table_S1	Direct comorbidity
H65	Nonsuppurative otitis media	129	288	7.754	0	0	8.65 (13.59)	Turner syndrome	Table_S1	Direct comorbidity
H65	Nonsuppurative otitis media	19	29	11.862	0.0000000000000371	0.0000000000000909	1.98 (2.63)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
H65	Nonsuppurative otitis media	18	21	14.385	0.0000000000000444	0.000000000000142	2.42 (3.29)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
H65	Nonsuppurative otitis media	15	54	5.222	0.000000804	0.00000224	1.73 (0.87)	Angelman syndrome	Table_S1	Direct comorbidity
H65	Nonsuppurative otitis media	36	109	5.804	0.00000000000000136	0.0000000000000131	2.6 (3.1)	Fragile X syndrome	Table_S1	Direct comorbidity
H65	Nonsuppurative otitis media	313	521	10.703	0	0	5.85 (11.79)	Down syndrome	Table_S3	Female DS direct comorbidity
H65	Nonsuppurative otitis media	379	747	8.663	0	0	5.26 (12)	Down syndrome	Table_S3	Male DS direct comorbidity
H65	Nonsuppurative otitis media	8	27	5.625	0.000272	0.00438	2.61 (3.27)	Fragile X syndrome	Table_S5	Female FXS direct comorbidity
H65	Nonsuppurative otitis media	28	88	5.563	0.00000000000397	0.0000000000322	2.56 (3.05)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
H65	Nonsuppurative otitis media	341	563	10.576	0	0	4.93 (8.31)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H65	Nonsuppurative otitis media	13	22	10.280	0.00000000578	0.0000000412	4.59 (9.05)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
H65	Nonsuppurative otitis media	60	84	12.111	1.26e-39	8.94e-39	7.82 (8.64)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H66	Suppurative and unspecified otitis media	248	1228	3.533	0	0	9.18 (14.72)	Down syndrome	Table_S1	Direct comorbidity
H66	Suppurative and unspecified otitis media	7	33	4.239	0.00323	0.0357	4.09 (11.03)	Triple X syndrome	Table_S1	Direct comorbidity
H66	Suppurative and unspecified otitis media	90	282	5.543	2.34e-34	1.08e-33	9.16 (16.47)	Turner syndrome	Table_S1	Direct comorbidity
H66	Suppurative and unspecified otitis media	8	37	4.214	0.00139	0.0034	1.88 (3.07)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
H66	Suppurative and unspecified otitis media	10	26	6.786	0.0000102	0.0000326	1.72 (0.66)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
H66	Suppurative and unspecified otitis media	16	72	4.180	0.00000424	0.0000118	2.55 (12.96)	Angelman syndrome	Table_S1	Direct comorbidity
H66	Suppurative and unspecified otitis media	18	119	2.732	0.000356	0.00343	1.63 (2.58)	Fragile X syndrome	Table_S1	Direct comorbidity
H66	Suppurative and unspecified otitis media	96	497	3.466	1.2e-22	4.27e-22	9.94 (14.22)	Down syndrome	Table_S3	Female DS direct comorbidity
H66	Suppurative and unspecified otitis media	152	673	3.871	5.33001e-40	1.75e-39	8.99 (15.03)	Down syndrome	Table_S3	Male DS direct comorbidity
H66	Suppurative and unspecified otitis media	13	84	2.812	0.00197	0.016	1.82 (2.89)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
H66	Suppurative and unspecified otitis media	125	525	4.178	1.11e-36	3.08e-36	6.57 (11.26)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H66	Suppurative and unspecified otitis media	39	82	8.133	8.65e-21	6.16e-20	8.43 (13.71)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H68	Eustachian salpingitis and obstruction	92	85	18.858	0	0	9.75 (13.73)	Down syndrome	Table_S1	Direct comorbidity
H68	Eustachian salpingitis and obstruction	20	22	15.738	0.00000000000000765	0.0000000000000353	10.37 (19.53)	Turner syndrome	Table_S1	Direct comorbidity
H68	Eustachian salpingitis and obstruction	30	43	12.535	1.35e-19	4.8e-19	8.92 (16.64)	Down syndrome	Table_S3	Female DS direct comorbidity
H68	Eustachian salpingitis and obstruction	62	56	18.847	0	1.4013e-45	10.15 (11.93)	Down syndrome	Table_S3	Male DS direct comorbidity
H68	Eustachian salpingitis and obstruction	56	37	26.162	0	0	8.96 (9.45)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H68	Eustachian salpingitis and obstruction	7	9	13.501	0.0000111	0.0000791	10.41 (19.33)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H71	Cholesteatoma of middle ear	52	125	7.335	2.84e-24	9.4e-24	29.45 (15.23)	Down syndrome	Table_S1	Direct comorbidity
H71	Cholesteatoma of middle ear	40	36	19.101	1.33e-30	6.15e-30	18.85 (15.15)	Turner syndrome	Table_S1	Direct comorbidity
H71	Cholesteatoma of middle ear	25	59	7.710	0.000000000000845	0.000000000003	26.81 (15.16)	Down syndrome	Table_S3	Female DS direct comorbidity
H71	Cholesteatoma of middle ear	27	76	6.201	0.00000000000771	0.0000000000253	34.88 (14.9)	Down syndrome	Table_S3	Male DS direct comorbidity
H71	Cholesteatoma of middle ear	21	52	7.240	0.000000000152	0.000000000424	21.94 (15.14)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H71	Cholesteatoma of middle ear	20	12	27.262	4.48e-18	3.19e-17	13.8 (11.36)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H72	Perforation of tympanic membrane	69	352	3.458	2.59e-16	8.59e-16	13.91 (12.29)	Down syndrome	Table_S1	Direct comorbidity
H72	Perforation of tympanic membrane	45	99	7.929	1.54e-22	7.09e-22	13.59 (11.64)	Turner syndrome	Table_S1	Direct comorbidity
H72	Perforation of tympanic membrane	29	165	3.215	0.000000476	0.00000169	13.24 (13.33)	Down syndrome	Table_S3	Female DS direct comorbidity
H72	Perforation of tympanic membrane	40	179	3.884	0.0000000000243	0.0000000000797	14.14 (11.48)	Down syndrome	Table_S3	Male DS direct comorbidity
H72	Perforation of tympanic membrane	33	155	3.801	0.00000000194	0.00000000538	10.89 (10.83)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H72	Perforation of tympanic membrane	23	29	13.501	3.98e-16	0.00000000000000284	12.5 (9.69)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H74	Other disorders of middle ear and mastoid	21	44	8.526	0.0000000000147	0.0000000000486	32.46 (16.07)	Down syndrome	Table_S1	Direct comorbidity
H74	Other disorders of middle ear and mastoid	12	10	20.371	0.00000000026	0.0000000012	20.16 (13.71)	Turner syndrome	Table_S1	Direct comorbidity
H74	Other disorders of middle ear and mastoid	8	20	7.625	0.0000748	0.000265	32.61 (14.58)	Down syndrome	Table_S3	Female DS direct comorbidity
H74	Other disorders of middle ear and mastoid	13	19	11.937	0.00000000565	0.0000000185	21.41 (16.92)	Down syndrome	Table_S3	Male DS direct comorbidity
H74	Other disorders of middle ear and mastoid	5	4	20.252	0.0000531	0.000378	14.46 (15.26)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H80	Otosclerosis	12	47	4.668	0.000069	0.000318	50.51 (9.71)	Turner syndrome	Table_S1	Direct comorbidity
H90	Conductive and sensorineural hearing loss	5	13	7.587	0.00169	0.00851	10.59 (16.65)	Patau syndrome	Table_S1	Direct comorbidity
H90	Conductive and sensorineural hearing loss	363	865	7.330	0	0	23.28 (19.89)	Down syndrome	Table_S1	Direct comorbidity
H90	Conductive and sensorineural hearing loss	165	177	16.075	0	0	33.94 (18)	Turner syndrome	Table_S1	Direct comorbidity
H90	Conductive and sensorineural hearing loss	10	7	24.465	0.00000000078	0.00000000191	3.78 (4.89)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
H90	Conductive and sensorineural hearing loss	9	6	23.795	0.0000000101	0.0000000322	3.98 (9.67)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
H90	Conductive and sensorineural hearing loss	166	363	8.163	0	0	23.02 (20.35)	Down syndrome	Table_S3	Female DS direct comorbidity
H90	Conductive and sensorineural hearing loss	197	442	7.622	0	0	23.43 (19.5)	Down syndrome	Table_S3	Male DS direct comorbidity
H90	Conductive and sensorineural hearing loss	141	203	12.140	0	0	14.16 (17.85)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H90	Conductive and sensorineural hearing loss	6	13	8.444	0.000313	0.00223	16.66 (10.17)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
H90	Conductive and sensorineural hearing loss	61	39	26.159	0	0	24.79 (14.24)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H91	Other hearing loss	10	33	5.851	0.0000469	0.000226	3.69 (16.82)	Edwards syndrome	Table_S1	Direct comorbidity
H91	Other hearing loss	401	1790	3.914	0	0	38.27 (21.33)	Down syndrome	Table_S1	Direct comorbidity
H91	Other hearing loss	178	328	9.378	0	0	44.64 (19.57)	Turner syndrome	Table_S1	Direct comorbidity
H91	Other hearing loss	6	4	24.909	0.00000247	0.00000606	11.43 (6.91)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
H91	Other hearing loss	6	11	9.716	0.000168	0.000539	18.24 (17.34)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
H91	Other hearing loss	11	55	3.697	0.000711	0.00685	3.89 (26.66)	Fragile X syndrome	Table_S1	Direct comorbidity
H91	Other hearing loss	177	691	4.577	0	0	39.58 (22.44)	Down syndrome	Table_S3	Female DS direct comorbidity
H91	Other hearing loss	224	1070	3.582	0	0	37.86 (20.39)	Down syndrome	Table_S3	Male DS direct comorbidity
H91	Other hearing loss	8	43	3.492	0.00565	0.0458	3.71 (27.71)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
H91	Other hearing loss	126	333	6.632	0	0	16.25 (17.71)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H91	Other hearing loss	8	24	6.080	0.000179	0.00128	11.71 (18.91)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
H91	Other hearing loss	61	50	20.517	0	0	35.53 (18.61)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H93	Other disorders of ear. not elsewhere classified	62	192	5.627	4.03e-24	1.86e-23	43.65 (16.07)	Turner syndrome	Table_S1	Direct comorbidity
H93	Other disorders of ear. not elsewhere classified	19	162	2.140	0.00441	0.0123	12.05 (13.61)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
H93	Other disorders of ear. not elsewhere classified	15	32	8.183	0.0000000146	0.000000104	37.1 (14.69)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
H94	Other disorders of ear in diseases classified elsewhere	8	45	3.412	0.00739	0.0245	30.78 (15.29)	Down syndrome	Table_S1	Direct comorbidity
H94	Other disorders of ear in diseases classified elsewhere	6	7	15.083	0.0000325	0.00015	39.55 (15.43)	Turner syndrome	Table_S1	Direct comorbidity
I08	Multiple valve diseases	6	11	10.173	0.000186	0.000616	24.35 (9.87)	Down syndrome	Table_S1	Direct comorbidity
I08	Multiple valve diseases	5	1	51.712	0.00000278	0.0000128	45.15 (12.54)	Turner syndrome	Table_S1	Direct comorbidity
I10	Essential (primary) hypertension	108	846	2.218	0.000000000000221	0.00000000000102	49.15 (14.66)	Turner syndrome	Table_S1	Direct comorbidity
I10	Essential (primary) hypertension	53	4468	0.211	0	0	52.67 (17.07)	Down syndrome	Table_S2	Inverse comorbidity
I10	Essential (primary) hypertension	25	2170	0.213	1.23e-26	3.23e-26	56.27 (20.16)	Down syndrome	Table_S4	Female DS inverse comorbidity
I10	Essential (primary) hypertension	28	2431	0.203	8.98e-32	2.27e-31	51.57 (13.64)	Down syndrome	Table_S4	Male DS inverse comorbidity
I10	Essential (primary) hypertension	5	644	0.161	0.000000000158	0.000000000402	45.65 (6.38)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
I10	Essential (primary) hypertension	27	126	3.721	0.0000000459	0.000000327	38.31 (13.57)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
I11	Hypertensive heart disease	9	19	8.619	0.0000113	0.0000523	53.33 (15.59)	Turner syndrome	Table_S1	Direct comorbidity
I15	Secondary hypertension	5	6	14.466	0.000178	0.00127	25.53 (6.62)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
I20	Angina pectoris	22	1878	0.213	4.45e-23	1.04e-22	46.66 (15.86)	Down syndrome	Table_S2	Inverse comorbidity
I20	Angina pectoris	9	678	0.262	0.0000000595	0.000000156	38.4 (17.77)	Down syndrome	Table_S4	Female DS inverse comorbidity
I20	Angina pectoris	13	1264	0.189	8.42e-18	2.13e-17	47.45 (13.66)	Down syndrome	Table_S4	Male DS inverse comorbidity
I20	Angina pectoris	5	242	0.428	0.0152	0.0387	45.88 (12.79)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
I21	Acute myocardial infarction	16	99	2.930	0.000519	0.00239	59.75 (13.4)	Turner syndrome	Table_S1	Direct comorbidity
I21	Acute myocardial infarction	25	1083	0.418	0.000000212	0.000000494	51.75 (16.98)	Down syndrome	Table_S2	Inverse comorbidity
I21	Acute myocardial infarction	15	808	0.337	0.000000112	0.000000283	47.23 (14.83)	Down syndrome	Table_S4	Male DS inverse comorbidity
I25	Chronic ischaemic heart disease	28	157	3.164	0.000000932	0.0000043	62.9 (16.39)	Turner syndrome	Table_S1	Direct comorbidity
I25	Chronic ischaemic heart disease	38	1512	0.450	0.0000000107	0.000000025	52.33 (19.89)	Down syndrome	Table_S2	Inverse comorbidity
I25	Chronic ischaemic heart disease	21	1119	0.335	0.000000000374	0.000000000945	51.95 (18.75)	Down syndrome	Table_S4	Male DS inverse comorbidity
I25	Chronic ischaemic heart disease	6	21	5.370	0.00304	0.0216	52.58 (9.31)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
I26	Pulmonary embolism	29	305	1.710	0.00896	0.0297	42.49 (16.28)	Down syndrome	Table_S1	Direct comorbidity
I26	Pulmonary embolism	16	66	4.111	0.0000159	0.0000963	45.16 (11.46)	Klinefelter syndrome	Table_S1	Direct comorbidity
I26	Pulmonary embolism	8	41	3.737	0.00448	0.0124	21.35 (14.25)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I27	Other pulmonary heart diseases	75	81	16.163	0	0	21.43 (21.65)	Down syndrome	Table_S1	Direct comorbidity
I27	Other pulmonary heart diseases	42	51	14.713	6.66e-29	2.36e-28	22.51 (21.88)	Down syndrome	Table_S3	Female DS direct comorbidity
I27	Other pulmonary heart diseases	33	40	14.141	1.83e-22	6e-22	17.38 (21.22)	Down syndrome	Table_S3	Male DS direct comorbidity
I27	Other pulmonary heart diseases	30	23	22.528	1.27e-24	3.54e-24	5.79 (20.19)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I30	Acute pericarditis	7	35	3.954	0.00622	0.0221	25.02 (19.24)	Down syndrome	Table_S3	Female DS direct comorbidity
I31	Other diseases of pericardium	15	49	5.580	0.00000126	0.00000419	29.56 (24.77)	Down syndrome	Table_S1	Direct comorbidity
I31	Other diseases of pericardium	8	22	6.962	0.000128	0.000454	39.87 (24.81)	Down syndrome	Table_S3	Female DS direct comorbidity
I31	Other diseases of pericardium	7	37	3.590	0.00996	0.0327	24.87 (22.81)	Down syndrome	Table_S3	Male DS direct comorbidity
I33	Acute and subacute endocarditis	22	46	8.534	0.00000000000468	0.0000000000155	17.4 (20.89)	Down syndrome	Table_S1	Direct comorbidity
I33	Acute and subacute endocarditis	5	10	9.402	0.000919	0.00423	44.05 (7.18)	Turner syndrome	Table_S1	Direct comorbidity
I33	Acute and subacute endocarditis	10	16	11.513	0.000000425	0.00000151	15.99 (22.85)	Down syndrome	Table_S3	Female DS direct comorbidity
I33	Acute and subacute endocarditis	12	31	6.927	0.00000245	0.00000805	18.09 (19.06)	Down syndrome	Table_S3	Male DS direct comorbidity
I33	Acute and subacute endocarditis	14	15	16.351	0.0000000000616	0.000000000171	12.16 (22.28)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I34	Nonrheumatic mitral valve disorders	55	200	4.859	1.11e-18	3.67e-18	25.02 (19.39)	Down syndrome	Table_S1	Direct comorbidity
I34	Nonrheumatic mitral valve disorders	8	38	3.978	0.00318	0.0147	58.79 (24.46)	Turner syndrome	Table_S1	Direct comorbidity
I34	Nonrheumatic mitral valve disorders	32	76	7.625	6.37e-16	0.00000000000000226	20.63 (17.97)	Down syndrome	Table_S3	Female DS direct comorbidity
I34	Nonrheumatic mitral valve disorders	23	93	4.354	0.0000000838	0.000000275	29.19 (20.67)	Down syndrome	Table_S3	Male DS direct comorbidity
I34	Nonrheumatic mitral valve disorders	23	35	11.627	0.00000000000000837	0.0000000000000233	16.77 (16.08)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I35	Nonrheumatic aortic valve disorders	62	391	2.803	0.0000000000264	0.0000000000876	47.78 (19.09)	Down syndrome	Table_S1	Direct comorbidity
I35	Nonrheumatic aortic valve disorders	43	58	12.855	6.45e-28	2.97e-27	48.14 (18.91)	Turner syndrome	Table_S1	Direct comorbidity
I35	Nonrheumatic aortic valve disorders	31	183	3.094	0.000000396	0.0000014	46.79 (21.54)	Down syndrome	Table_S3	Female DS direct comorbidity
I35	Nonrheumatic aortic valve disorders	31	235	2.312	0.0000785	0.000258	48.78 (16.12)	Down syndrome	Table_S3	Male DS direct comorbidity
I35	Nonrheumatic aortic valve disorders	18	75	4.360	0.00000212	0.00000589	45.59 (24.63)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I35	Nonrheumatic aortic valve disorders	15	10	24.548	0.000000000000191	0.00000000000136	34.85 (18.78)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
I36	Nonrheumatic tricuspid valve disorders	9	16	10.258	0.00000369	0.0000122	36.48 (18.95)	Down syndrome	Table_S1	Direct comorbidity
I36	Nonrheumatic tricuspid valve disorders	7	9	13.642	0.0000115	0.0000379	11.1 (19.47)	Down syndrome	Table_S3	Male DS direct comorbidity
I37	Pulmonary valve disorders	5	9	10.463	0.000618	0.00205	14.71 (16.43)	Down syndrome	Table_S1	Direct comorbidity
I37	Pulmonary valve disorders	5	8	11.368	0.000457	0.0015	14.71 (16.43)	Down syndrome	Table_S3	Male DS direct comorbidity
I38	Endocarditis. valve unspecified	5	17	5.813	0.00566	0.0187	19.45 (16.29)	Down syndrome	Table_S1	Direct comorbidity
I39	Endocarditis and heart valve disorders in diseases classified elsewhere	7	11	11.626	0.0000256	0.0000847	12.21 (19.58)	Down syndrome	Table_S1	Direct comorbidity
I42	Cardiomyopathy	9	30	5.560	0.000202	0.000932	33.73 (24.11)	Turner syndrome	Table_S1	Direct comorbidity
I44	Atrioventricular and left bundle-branch block	35	173	3.608	0.00000000255	0.00000000844	23.05 (20.34)	Down syndrome	Table_S1	Direct comorbidity
I44	Atrioventricular and left bundle-branch block	7	20	6.567	0.000485	0.00224	54.74 (22.12)	Turner syndrome	Table_S1	Direct comorbidity
I44	Atrioventricular and left bundle-branch block	17	69	4.575	0.0000024	0.0000085	21.23 (18.02)	Down syndrome	Table_S3	Female DS direct comorbidity
I44	Atrioventricular and left bundle-branch block	18	113	2.842	0.000331	0.00109	37.56 (19.95)	Down syndrome	Table_S3	Male DS direct comorbidity
I44	Atrioventricular and left bundle-branch block	13	29	8.139	0.000000187	0.00000052	17.3 (9.83)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I45	Other conduction disorders	37	163	4.041	0.0000000000559	0.000000000185	50.63 (16.57)	Down syndrome	Table_S1	Direct comorbidity
I45	Other conduction disorders	6	25	4.641	0.00599	0.0276	50.44 (6.5)	Turner syndrome	Table_S1	Direct comorbidity
I45	Other conduction disorders	18	67	4.971	0.000000418	0.00000148	51.23 (17.91)	Down syndrome	Table_S3	Female DS direct comorbidity
I45	Other conduction disorders	19	88	3.832	0.00000608	0.0000199	49.3 (15.17)	Down syndrome	Table_S3	Male DS direct comorbidity
I45	Other conduction disorders	11	43	4.757	0.000124	0.000345	49.3 (18.21)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I46	Cardiac arrest	42	238	3.138	0.00000000258	0.00000000855	45.77 (25.07)	Down syndrome	Table_S1	Direct comorbidity
I46	Cardiac arrest	16	83	3.601	0.000065	0.00023	37.51 (24.72)	Down syndrome	Table_S3	Female DS direct comorbidity
I46	Cardiac arrest	26	188	2.436	0.000146	0.000479	50.83 (25.05)	Down syndrome	Table_S3	Male DS direct comorbidity
I46	Cardiac arrest	10	32	5.814	0.0000623	0.000173	10.18 (21.24)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I47	Paroxysmal tachycardia	5	5	17.703	0.0000692	0.000348	42.92 (20.44)	Patau syndrome	Table_S1	Direct comorbidity
I47	Paroxysmal tachycardia	17	139	2.216	0.0052	0.024	44.61 (13.93)	Turner syndrome	Table_S1	Direct comorbidity
I47	Paroxysmal tachycardia	17	668	0.469	0.000242	0.000563	47.09 (20.65)	Down syndrome	Table_S2	Inverse comorbidity
I47	Paroxysmal tachycardia	9	369	0.461	0.00441	0.0111	43.65 (17.34)	Down syndrome	Table_S4	Male DS inverse comorbidity
I48	Atrial fibrillation and flutter	32	289	1.844	0.00195	0.0118	55.71 (14.21)	Klinefelter syndrome	Table_S1	Direct comorbidity
I48	Atrial fibrillation and flutter	26	180	2.571	0.0000604	0.000278	63.68 (10.34)	Turner syndrome	Table_S1	Direct comorbidity
I48	Atrial fibrillation and flutter	35	1419	0.442	0.0000000205	0.0000000477	48.59 (16.48)	Down syndrome	Table_S2	Inverse comorbidity
I48	Atrial fibrillation and flutter	20	969	0.369	0.0000000416	0.000000105	47.46 (15.77)	Down syndrome	Table_S4	Male DS inverse comorbidity
I49	Other cardiac arrhythmias	5	3	26.554	0.0000167	0.000084	24.58 (19.18)	Patau syndrome	Table_S1	Direct comorbidity
I49	Other cardiac arrhythmias	51	577	1.569	0.00293	0.00971	50.9 (14.74)	Down syndrome	Table_S1	Direct comorbidity
I49	Other cardiac arrhythmias	14	86	3.007	0.000969	0.00269	38.35 (16.52)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I50	Heart failure	163	852	3.353	1.47e-35	4.88e-35	40.37 (23.9)	Down syndrome	Table_S1	Direct comorbidity
I50	Heart failure	27	108	4.428	0.00000000372	0.0000000171	59.41 (19.13)	Turner syndrome	Table_S1	Direct comorbidity
I50	Heart failure	86	283	5.450	6.77e-32	2.4e-31	42.77 (23.63)	Down syndrome	Table_S3	Female DS direct comorbidity
I50	Heart failure	77	595	2.232	0.00000000137	0.00000000449	34.46 (23.63)	Down syndrome	Table_S3	Male DS direct comorbidity
I50	Heart failure	55	111	8.721	7.08e-29	1.97e-28	12.68 (24.23)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I50	Heart failure	5	9	10.126	0.00067	0.00478	44.94 (17.94)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
I51	Complications and ill-defined descriptions of heart disease	29	147	3.535	0.0000000908	0.000000301	18.53 (20.81)	Down syndrome	Table_S1	Direct comorbidity
I51	Complications and ill-defined descriptions of heart disease	8	37	3.837	0.00393	0.0238	41.07 (17.28)	Klinefelter syndrome	Table_S1	Direct comorbidity
I51	Complications and ill-defined descriptions of heart disease	9	36	4.659	0.00063	0.0029	31.51 (17.32)	Turner syndrome	Table_S1	Direct comorbidity
I51	Complications and ill-defined descriptions of heart disease	17	69	4.575	0.0000024	0.0000085	31.71 (20.49)	Down syndrome	Table_S3	Female DS direct comorbidity
I51	Complications and ill-defined descriptions of heart disease	12	77	2.842	0.00362	0.0119	6.25 (19.92)	Down syndrome	Table_S3	Male DS direct comorbidity
I51	Complications and ill-defined descriptions of heart disease	11	22	9.100	0.000000714	0.00000199	15.98 (12.66)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I61	Intracerebral haemorrhage	25	224	2.015	0.00237	0.00786	53.64 (20.66)	Down syndrome	Table_S1	Direct comorbidity
I61	Intracerebral haemorrhage	13	90	2.737	0.0032	0.0113	53.91 (19.7)	Down syndrome	Table_S3	Female DS direct comorbidity
I63	Cerebral infarction	17	117	2.629	0.00103	0.00473	61.82 (10.34)	Turner syndrome	Table_S1	Direct comorbidity
I64	Stroke. not specified as haemorrhage or infarction	12	484	0.457	0.00103	0.0026	51.79 (10.37)	Down syndrome	Table_S4	Male DS inverse comorbidity
I69	Sequelae of cerebrovascular disease	25	121	3.674	0.000000336	0.00000155	61.97 (10.09)	Turner syndrome	Table_S1	Direct comorbidity
I70	Atherosclerosis	20	85	3.956	0.00000212	0.0000128	57.16 (11.38)	Klinefelter syndrome	Table_S1	Direct comorbidity
I71	Aortic aneurysm and dissection	29	16	30.419	4.55e-26	2.1e-25	46.08 (14.8)	Turner syndrome	Table_S1	Direct comorbidity
I71	Aortic aneurysm and dissection	6	3	29.534	0.00000201	0.0000143	48.79 (12.7)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
I73	Other peripheral vascular diseases	14	95	2.531	0.00412	0.0249	60.19 (10.1)	Klinefelter syndrome	Table_S1	Direct comorbidity
I73	Other peripheral vascular diseases	14	542	0.482	0.00128	0.00299	46.97 (15.55)	Down syndrome	Table_S2	Inverse comorbidity
I73	Other peripheral vascular diseases	6	345	0.345	0.000572	0.00145	48.07 (18.14)	Down syndrome	Table_S4	Male DS inverse comorbidity
I80	Phlebitis and thrombophlebitis	92	703	2.304	0.00000000000912	0.0000000000302	51.49 (13.84)	Down syndrome	Table_S1	Direct comorbidity
I80	Phlebitis and thrombophlebitis	42	163	4.248	0.000000000000456	0.00000000000275	44.09 (13.14)	Klinefelter syndrome	Table_S1	Direct comorbidity
I80	Phlebitis and thrombophlebitis	36	327	2.007	0.000261	0.000924	48.49 (13.9)	Down syndrome	Table_S3	Female DS direct comorbidity
I80	Phlebitis and thrombophlebitis	56	409	2.371	0.000000044	0.000000144	52.02 (13.8)	Down syndrome	Table_S3	Male DS direct comorbidity
I80	Phlebitis and thrombophlebitis	15	105	2.633	0.00209	0.0058	41.89 (17.31)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I82	Other venous embolism and thrombosis	16	139	2.118	0.0103	0.034	43.71 (11.19)	Down syndrome	Table_S1	Direct comorbidity
I82	Other venous embolism and thrombosis	10	35	4.950	0.000203	0.00123	40.16 (10.82)	Klinefelter syndrome	Table_S1	Direct comorbidity
I83	Varicose veins of lower extremities	55	161	5.600	2.29e-21	1.38e-20	44.13 (13.28)	Klinefelter syndrome	Table_S1	Direct comorbidity
I83	Varicose veins of lower extremities	5	10	9.030	0.000919	0.00863	33.14 (8.65)	XYY syndrome	Table_S1	Direct comorbidity
I83	Varicose veins of lower extremities	6	463	0.260	0.00000401	0.0000171	55.58 (12.67)	Turner syndrome	Table_S2	Inverse comorbidity
I83	Varicose veins of lower extremities	81	477	2.925	0.0000000000000021	0.00000000000000687	44.11 (11.77)	Down syndrome	Table_S3	Male DS direct comorbidity
I83	Varicose veins of lower extremities	21	206	1.854	0.0118	0.0329	35.44 (12.37)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I87	Other disorders of veins	12	94	2.386	0.0124	0.0409	52.88 (14.91)	Down syndrome	Table_S1	Direct comorbidity
I87	Other disorders of veins	17	14	19.441	0.0000000000000986	0.000000000000595	52.62 (11.7)	Klinefelter syndrome	Table_S1	Direct comorbidity
I87	Other disorders of veins	8	35	4.263	0.00221	0.00726	49.13 (15.35)	Down syndrome	Table_S3	Male DS direct comorbidity
I89	Other noninfective disorders of lymphatic vessels and lymph nodes	6	17	6.300	0.00161	0.00971	37.22 (10.03)	Klinefelter syndrome	Table_S1	Direct comorbidity
I89	Other noninfective disorders of lymphatic vessels and lymph nodes	10	31	5.925	0.0000543	0.00025	38.04 (22.01)	Turner syndrome	Table_S1	Direct comorbidity
I95	Hypotension	20	154	2.363	0.00127	0.00422	55.1 (13.02)	Down syndrome	Table_S1	Direct comorbidity
I95	Hypotension	17	90	3.373	0.0000802	0.000263	54.1 (12.82)	Down syndrome	Table_S3	Male DS direct comorbidity
I97	Postprocedural disorders of circulatory system. not elsewhere classified	7	35	3.875	0.00693	0.0229	0.3 (1.03)	Down syndrome	Table_S1	Direct comorbidity
I97	Postprocedural disorders of circulatory system. not elsewhere classified	7	6	19.933	0.00000172	0.00000478	0.3 (1.03)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
I99	Other and unspecified disorders of circulatory system	10	71	2.664	0.0121	0.0401	59.94 (10.68)	Down syndrome	Table_S1	Direct comorbidity
J00	Acute nasopharyngitis [common cold]	7	35	3.934	0.00487	0.0245	2.34 (4.49)	Patau syndrome	Table_S1	Direct comorbidity
J00	Acute nasopharyngitis [common cold]	224	851	4.605	0	0	1.46 (5.31)	Down syndrome	Table_S1	Direct comorbidity
J00	Acute nasopharyngitis [common cold]	23	188	2.189	0.00127	0.00587	1.05 (11.58)	Turner syndrome	Table_S1	Direct comorbidity
J00	Acute nasopharyngitis [common cold]	14	19	13.344	0.0000000000569	0.000000000139	1.4 (2.3)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J00	Acute nasopharyngitis [common cold]	8	11	12.492	0.00000252	0.00000808	2.03 (1.94)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
J00	Acute nasopharyngitis [common cold]	8	37	4.252	0.00161	0.00447	0.89 (1.46)	Angelman syndrome	Table_S1	Direct comorbidity
J00	Acute nasopharyngitis [common cold]	14	91	2.813	0.0014	0.0136	1.59 (6.07)	Fragile X syndrome	Table_S1	Direct comorbidity
J00	Acute nasopharyngitis [common cold]	93	343	4.862	3.43e-31	1.22e-30	1.68 (6.32)	Down syndrome	Table_S3	Female DS direct comorbidity
J00	Acute nasopharyngitis [common cold]	131	452	4.969	3.36312e-44	1.10703e-43	1.35 (4.43)	Down syndrome	Table_S3	Male DS direct comorbidity
J00	Acute nasopharyngitis [common cold]	7	21	6.364	0.000378	0.00609	1.22 (0.9)	Fragile X syndrome	Table_S5	Female FXS direct comorbidity
J00	Acute nasopharyngitis [common cold]	145	396	6.414	0	0	1.46 (3.79)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J00	Acute nasopharyngitis [common cold]	15	80	3.334	0.000193	0.00137	0.97 (4.02)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
J01	Acute sinusitis	5	10	9.412	0.000864	0.00833	8.86 (15.38)	Fragile X syndrome	Table_S1	Direct comorbidity
J02	Acute pharyngitis	28	208	2.420	0.0000912	0.000302	3.73 (13.56)	Down syndrome	Table_S1	Direct comorbidity
J02	Acute pharyngitis	18	109	2.945	0.000224	0.000736	2.37 (12.83)	Down syndrome	Table_S3	Male DS direct comorbidity
J02	Acute pharyngitis	20	70	5.159	0.0000000534	0.000000148	3.56 (6.36)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J03	Acute tonsillitis	179	1422	2.206	5.05e-20	1.67e-19	5.81 (11.57)	Down syndrome	Table_S1	Direct comorbidity
J03	Acute tonsillitis	7	28	4.908	0.00138	0.00339	4.71 (4.92)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J03	Acute tonsillitis	73	653	2.013	0.000000145	0.000000515	6.06 (9.8)	Down syndrome	Table_S3	Female DS direct comorbidity
J03	Acute tonsillitis	106	756	2.410	0.0000000000000112	0.0000000000000368	5.54 (12.59)	Down syndrome	Table_S3	Male DS direct comorbidity
J03	Acute tonsillitis	92	595	2.722	5.5e-16	0.00000000000000153	5.01 (6.99)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J04	Acute laryngitis and tracheitis	26	139	3.363	0.000000993	0.00000329	5.12 (19.34)	Down syndrome	Table_S1	Direct comorbidity
J04	Acute laryngitis and tracheitis	17	70	4.323	0.00000488	0.000016	4.74 (14.12)	Down syndrome	Table_S3	Male DS direct comorbidity
J04	Acute laryngitis and tracheitis	16	50	5.814	0.000000321	0.000000892	3.92 (5.26)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J05	Acute obstructive laryngitis [croup] and epiglottitis	254	916	4.849	0	0	2.63 (6.26)	Down syndrome	Table_S1	Direct comorbidity
J05	Acute obstructive laryngitis [croup] and epiglottitis	97	252	6.892	6.65617e-43	2.35979e-42	2.36 (7.15)	Down syndrome	Table_S3	Female DS direct comorbidity
J05	Acute obstructive laryngitis [croup] and epiglottitis	157	616	4.367	0	0	2.68 (5.64)	Down syndrome	Table_S3	Male DS direct comorbidity
J05	Acute obstructive laryngitis [croup] and epiglottitis	148	466	5.565	0	0	2.63 (3.03)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J06	Acute upper respiratory infections of multiple and unspecified sites	108	523	3.628	2.83e-26	9.36e-26	3.09 (15.02)	Down syndrome	Table_S1	Direct comorbidity
J06	Acute upper respiratory infections of multiple and unspecified sites	5	14	6.663	0.00275	0.00882	2.06 (4.51)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
J06	Acute upper respiratory infections of multiple and unspecified sites	48	232	3.742	0.000000000000646	0.00000000000229	4.18 (16.6)	Down syndrome	Table_S3	Female DS direct comorbidity
J06	Acute upper respiratory infections of multiple and unspecified sites	60	313	3.313	0.000000000000102	0.000000000000335	2.28 (13.14)	Down syndrome	Table_S3	Male DS direct comorbidity
J06	Acute upper respiratory infections of multiple and unspecified sites	58	184	5.562	2.46e-22	6.83e-22	3.87 (10.76)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J10	Influenza due to other identified influenza virus	13	41	5.813	0.00000464	0.0000154	6.68 (19.82)	Down syndrome	Table_S1	Direct comorbidity
J10	Influenza due to other identified influenza virus	6	17	6.919	0.00103	0.00366	7.51 (19.88)	Down syndrome	Table_S3	Female DS direct comorbidity
J10	Influenza due to other identified influenza virus	7	26	5.053	0.00188	0.00618	6.68 (19.73)	Down syndrome	Table_S3	Male DS direct comorbidity
J10	Influenza due to other identified influenza virus	6	17	6.783	0.00113	0.00314	3.85 (16.28)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J12	Viral pneumonia. not elsewhere classified	141	358	6.898	0	0	0.93 (4.51)	Down syndrome	Table_S1	Direct comorbidity
J12	Viral pneumonia. not elsewhere classified	7	13	10.167	0.0000291	0.0000713	0.97 (1.14)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J12	Viral pneumonia. not elsewhere classified	5	10	9.085	0.000844	0.0027	1.89 (1.42)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
J12	Viral pneumonia. not elsewhere classified	5	23	4.488	0.0124	0.0346	0.5 (0.35)	Angelman syndrome	Table_S1	Direct comorbidity
J12	Viral pneumonia. not elsewhere classified	51	152	6.047	5.6e-21	1.99e-20	1.17 (7)	Down syndrome	Table_S3	Female DS direct comorbidity
J12	Viral pneumonia. not elsewhere classified	90	222	6.959	7.9e-40	2.59e-39	0.87 (1.91)	Down syndrome	Table_S3	Male DS direct comorbidity
J12	Viral pneumonia. not elsewhere classified	100	196	8.942	0	0	0.92 (2.16)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J13	Pneumonia due to Streptococcus pneumoniae	30	134	4.004	0.00000000462	0.0000000153	1.9 (14.7)	Down syndrome	Table_S1	Direct comorbidity
J13	Pneumonia due to Streptococcus pneumoniae	9	55	3.177	0.00651	0.0231	2.07 (3.76)	Down syndrome	Table_S3	Female DS direct comorbidity
J13	Pneumonia due to Streptococcus pneumoniae	21	71	5.210	0.0000000232	0.0000000761	1.74 (16.86)	Down syndrome	Table_S3	Male DS direct comorbidity
J13	Pneumonia due to Streptococcus pneumoniae	15	34	7.973	0.0000000252	0.0000000702	1.67 (5.07)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J14	Pneumonia due to Haemophilus influenzae	53	91	10.236	3.93e-30	1.3e-29	1.94 (14.38)	Down syndrome	Table_S1	Direct comorbidity
J14	Pneumonia due to Haemophilus influenzae	25	33	13.606	3.66e-17	1.3e-16	2.53 (18.02)	Down syndrome	Table_S3	Female DS direct comorbidity
J14	Pneumonia due to Haemophilus influenzae	28	45	10.750	5.68e-17	1.86e-16	1.69 (8.76)	Down syndrome	Table_S3	Male DS direct comorbidity
J14	Pneumonia due to Haemophilus influenzae	28	19	25.290	6.31e-24	1.75e-23	1.79 (2.12)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	8	12	12.256	0.00000284	0.0000143	11.48 (18.63)	Patau syndrome	Table_S1	Direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	329	844	6.810	0	0	40.88 (24.92)	Down syndrome	Table_S1	Direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	29	175	2.762	0.00000666	0.0000402	51.9 (27.47)	Klinefelter syndrome	Table_S1	Direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	5	7	12.492	0.000253	0.000812	2.72 (20.1)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	6	15	7.854	0.000456	0.00127	13.61 (18.68)	Angelman syndrome	Table_S1	Direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	7	33	4.060	0.00506	0.0488	63.8 (29.5)	Fragile X syndrome	Table_S1	Direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	149	361	7.372	0	0	42.58 (24.8)	Down syndrome	Table_S3	Female DS direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	180	465	6.623	0	0	37.34 (24.99)	Down syndrome	Table_S3	Male DS direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	6	24	4.781	0.0048	0.0389	58.13 (31.1)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	115	201	10.016	0	0	8.6 (21.64)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J15	Bacterial pneumonia. not elsewhere classified	5	5	16.889	0.0000821	0.000585	35.63 (23.87)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
J16	Pneumonia due to other infectious organisms. not elsewhere classified	20	34	10.463	0.00000000000245	0.0000000000081	24.24 (23.69)	Down syndrome	Table_S1	Direct comorbidity
J16	Pneumonia due to other infectious organisms. not elsewhere classified	8	10	14.557	0.0000017	0.00000602	32.61 (21.16)	Down syndrome	Table_S3	Female DS direct comorbidity
J16	Pneumonia due to other infectious organisms. not elsewhere classified	12	24	8.867	0.000000287	0.000000943	13.4 (24.82)	Down syndrome	Table_S3	Male DS direct comorbidity
J16	Pneumonia due to other infectious organisms. not elsewhere classified	7	6	19.933	0.00000172	0.00000478	1.04 (15.05)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J17	Pneumonia in diseases classified elsewhere	12	25	8.719	0.000000327	0.00000108	1.17 (8.55)	Down syndrome	Table_S1	Direct comorbidity
J17	Pneumonia in diseases classified elsewhere	9	20	8.120	0.0000174	0.0000571	1.19 (9.58)	Down syndrome	Table_S3	Male DS direct comorbidity
J17	Pneumonia in diseases classified elsewhere	7	18	7.344	0.000271	0.000755	0.66 (0.36)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J18	Pneumonia. organism unspecified	15	59	4.721	0.00000217	0.0000109	3.66 (19.93)	Patau syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	18	135	2.527	0.000761	0.00367	2.15 (17.09)	Edwards syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	1045	3190	5.716	0	0	28.75 (24.83)	Down syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	73	641	1.867	0.00000129	0.00000781	34.24 (24.9)	Klinefelter syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	13	54	4.214	0.0000421	0.000395	4.34 (11.29)	XYY syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	80	654	2.132	0.00000000226	0.0000000104	37.03 (27.19)	Turner syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	19	35	9.885	0.000000000000485	0.00000000000119	3.05 (11.94)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	17	40	7.312	0.00000000113	0.00000000362	5.02 (20.27)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	13	48	5.129	0.00000615	0.0000171	2.18 (19.71)	Angelman syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	22	171	2.307	0.000617	0.00595	6.87 (20.72)	Fragile X syndrome	Table_S1	Direct comorbidity
J18	Pneumonia. organism unspecified	455	1381	5.871	0	0	32.46 (24.89)	Down syndrome	Table_S3	Female DS direct comorbidity
J18	Pneumonia. organism unspecified	590	1845	5.459	0	0	26.43 (24.78)	Down syndrome	Table_S3	Male DS direct comorbidity
J18	Pneumonia. organism unspecified	18	138	2.334	0.00165	0.0134	10.7 (21.81)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
J18	Pneumonia. organism unspecified	398	867	8.017	0	0	4.43 (20.23)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J18	Pneumonia. organism unspecified	15	52	5.099	0.000000752	0.00000536	14.42 (24.07)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
J18	Pneumonia. organism unspecified	23	169	2.383	0.000325	0.00232	5.28 (23.79)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
J20	Acute bronchitis	249	1311	3.323	0	0	1.69 (15.25)	Down syndrome	Table_S1	Direct comorbidity
J20	Acute bronchitis	9	48	3.378	0.00332	0.0312	2.53 (1.67)	XYY syndrome	Table_S1	Direct comorbidity
J20	Acute bronchitis	9	22	7.736	0.0000104	0.0000255	1.57 (1.12)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J20	Acute bronchitis	8	34	4.283	0.00143	0.00458	1.35 (2.63)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
J20	Acute bronchitis	9	48	3.664	0.00196	0.00545	1.17 (0.87)	Angelman syndrome	Table_S1	Direct comorbidity
J20	Acute bronchitis	96	556	3.098	1.12e-19	3.98e-19	1.84 (17.28)	Down syndrome	Table_S3	Female DS direct comorbidity
J20	Acute bronchitis	153	775	3.384	2.1e-34	6.88e-34	1.58 (13.76)	Down syndrome	Table_S3	Male DS direct comorbidity
J20	Acute bronchitis	151	590	4.486	0	0	1.41 (7.02)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J21	Acute bronchiolitis	40	162	4.386	0.000000000001	0.00000000000331	1.27 (8.71)	Down syndrome	Table_S1	Direct comorbidity
J21	Acute bronchiolitis	5	9	10.675	0.000416	0.00102	0.64 (0.89)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J21	Acute bronchiolitis	16	71	4.201	0.0000124	0.000044	1.47 (13.31)	Down syndrome	Table_S3	Female DS direct comorbidity
J21	Acute bronchiolitis	24	115	3.675	0.000000655	0.00000215	1.12 (1.78)	Down syndrome	Table_S3	Male DS direct comorbidity
J21	Acute bronchiolitis	25	68	6.572	0.0000000000143	0.0000000000399	1.24 (1.75)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J22	Unspecified acute lower respiratory infection	30	100	5.353	0.0000000000118	0.0000000000391	41.33 (21.31)	Down syndrome	Table_S1	Direct comorbidity
J22	Unspecified acute lower respiratory infection	15	49	5.693	0.000000968	0.00000343	42.28 (23.77)	Down syndrome	Table_S3	Female DS direct comorbidity
J22	Unspecified acute lower respiratory infection	15	57	4.704	0.00000767	0.0000252	36.21 (18.1)	Down syndrome	Table_S3	Male DS direct comorbidity
J22	Unspecified acute lower respiratory infection	12	22	9.858	0.000000108	0.000000299	10.4 (15.59)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J30	Vasomotor and allergic rhinitis	17	790	0.397	0.00000462	0.0000108	12.83 (12.26)	Down syndrome	Table_S2	Inverse comorbidity
J30	Vasomotor and allergic rhinitis	6	379	0.328	0.000222	0.000583	7.28 (17.55)	Down syndrome	Table_S4	Female DS inverse comorbidity
J30	Vasomotor and allergic rhinitis	11	449	0.455	0.00139	0.00352	13.68 (7.93)	Down syndrome	Table_S4	Male DS inverse comorbidity
J30	Vasomotor and allergic rhinitis	5	252	0.411	0.00814	0.0207	9.6 (4.06)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
J31	Chronic rhinitis. nasopharyngitis and pharyngitis	11	65	3.235	0.0022	0.00779	7.96 (15.83)	Down syndrome	Table_S3	Female DS direct comorbidity
J31	Chronic rhinitis. nasopharyngitis and pharyngitis	6	31	3.815	0.0137	0.038	6.63 (12.52)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J34	Other disorders of nose and nasal sinuses	11	788	0.265	0.00000000378	0.00000000881	29.72 (14.02)	Down syndrome	Table_S2	Inverse comorbidity
J34	Other disorders of nose and nasal sinuses	7	581	0.234	0.0000000778	0.000000196	36.77 (11.99)	Down syndrome	Table_S4	Male DS inverse comorbidity
J35	Chronic diseases of tonsils and adenoids	447	2089	3.738	0	0	5.48 (7.07)	Down syndrome	Table_S1	Direct comorbidity
J35	Chronic diseases of tonsils and adenoids	75	629	2.079	0.0000000196	0.0000000905	6.29 (8.75)	Turner syndrome	Table_S1	Direct comorbidity
J35	Chronic diseases of tonsils and adenoids	7	38	3.650	0.00626	0.0153	4.41 (1.89)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J35	Chronic diseases of tonsils and adenoids	9	66	2.679	0.0127	0.0355	2.99 (2.65)	Angelman syndrome	Table_S1	Direct comorbidity
J35	Chronic diseases of tonsils and adenoids	21	166	2.273	0.001	0.00967	3.07 (2.26)	Fragile X syndrome	Table_S1	Direct comorbidity
J35	Chronic diseases of tonsils and adenoids	11	418	0.464	0.00214	0.0135	20.82 (10.35)	Klinefelter syndrome	Table_S2	Inverse comorbidity
J35	Chronic diseases of tonsils and adenoids	206	1006	3.657	0	0	5.82 (7.43)	Down syndrome	Table_S3	Female DS direct comorbidity
J35	Chronic diseases of tonsils and adenoids	241	1037	3.976	0	0	5.3 (6.68)	Down syndrome	Table_S3	Male DS direct comorbidity
J35	Chronic diseases of tonsils and adenoids	16	114	2.524	0.00153	0.0124	3.74 (2.09)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
J35	Chronic diseases of tonsils and adenoids	251	936	4.691	0	0	5.09 (5.08)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J35	Chronic diseases of tonsils and adenoids	37	232	2.752	0.00000013	0.000000929	4.8 (4.82)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
J38	Diseases of vocal cords and larynx. not elsewhere classified	10	70	2.702	0.0109	0.0304	7.47 (17.54)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J39	Other diseases of upper respiratory tract	37	117	5.616	0.0000000000000129	0.0000000000000427	2.46 (10.29)	Down syndrome	Table_S1	Direct comorbidity
J39	Other diseases of upper respiratory tract	15	54	5.176	0.00000268	0.0000095	1.98 (4.03)	Down syndrome	Table_S3	Female DS direct comorbidity
J39	Other diseases of upper respiratory tract	22	61	6.326	0.00000000052	0.0000000017	2.79 (12.55)	Down syndrome	Table_S3	Male DS direct comorbidity
J39	Other diseases of upper respiratory tract	21	54	6.976	0.000000000266	0.000000000741	2.97 (4.23)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J40	Bronchitis. not specified as acute or chronic	17	88	3.527	0.0000495	0.000164	2.84 (17.07)	Down syndrome	Table_S1	Direct comorbidity
J40	Bronchitis. not specified as acute or chronic	11	45	4.448	0.000215	0.000704	1.67 (20.15)	Down syndrome	Table_S3	Male DS direct comorbidity
J40	Bronchitis. not specified as acute or chronic	8	30	5.064	0.000821	0.00228	1.77 (18.94)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J42	Unspecified chronic bronchitis	9	43	3.682	0.00275	0.0166	54.82 (6.97)	Klinefelter syndrome	Table_S1	Direct comorbidity
J44	Other chronic obstructive pulmonary disease	38	235	2.677	0.000000439	0.00000265	56.15 (15.51)	Klinefelter syndrome	Table_S1	Direct comorbidity
J45	Asthma	79	609	2.125	0.00000000302	0.0000000182	17.87 (18.99)	Klinefelter syndrome	Table_S1	Direct comorbidity
J45	Asthma	12	48	4.779	0.0000236	0.000261	4.48 (14.48)	Triple X syndrome	Table_S1	Direct comorbidity
J45	Asthma	19	102	3.214	0.0000145	0.000137	4.31 (9.19)	XYY syndrome	Table_S1	Direct comorbidity
J45	Asthma	8	59	2.669	0.0174	0.0426	2 (4.89)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J45	Asthma	11	87	2.448	0.0098	0.0273	1.17 (0.72)	Angelman syndrome	Table_S1	Direct comorbidity
J45	Asthma	175	1895	1.583	0.0000000119	0.0000000389	2.06 (13.71)	Down syndrome	Table_S3	Male DS direct comorbidity
J45	Asthma	160	1239	2.265	3.11e-20	8.65e-20	1.95 (10.53)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J69	Pneumonitis due to solids and liquids	93	91	17.818	0	0	54.44 (17.51)	Down syndrome	Table_S1	Direct comorbidity
J69	Pneumonitis due to solids and liquids	32	30	18.940	1.17e-24	4.14e-24	52.63 (12.77)	Down syndrome	Table_S3	Female DS direct comorbidity
J69	Pneumonitis due to solids and liquids	61	76	13.730	7.07e-40	2.32e-39	55.72 (19.48)	Down syndrome	Table_S3	Male DS direct comorbidity
J69	Pneumonitis due to solids and liquids	19	18	18.359	0.00000000000000514	0.0000000000000143	50.17 (23.64)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J81	Pulmonary oedema	19	79	4.360	0.00000117	0.00000389	51.91 (18.69)	Down syndrome	Table_S1	Direct comorbidity
J81	Pulmonary oedema	14	33	7.849	0.0000000885	0.000000314	52.9 (19.52)	Down syndrome	Table_S3	Female DS direct comorbidity
J84	Other interstitial pulmonary diseases	5	20	4.983	0.00989	0.0275	26.03 (18.97)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J85	Abscess of lung and mediastinum	11	35	5.813	0.0000267	0.0000883	48.28 (21.14)	Down syndrome	Table_S1	Direct comorbidity
J85	Abscess of lung and mediastinum	7	22	5.931	0.000835	0.00274	47.43 (21.01)	Down syndrome	Table_S3	Male DS direct comorbidity
J86	Pyothorax	30	80	6.674	0.00000000000011	0.000000000000363	47.99 (16.08)	Down syndrome	Table_S1	Direct comorbidity
J86	Pyothorax	5	17	5.746	0.00586	0.027	36.2 (24.32)	Turner syndrome	Table_S1	Direct comorbidity
J86	Pyothorax	9	24	7.117	0.00004	0.000142	51.39 (16.52)	Down syndrome	Table_S3	Female DS direct comorbidity
J86	Pyothorax	21	47	7.816	0.0000000000547	0.000000000179	47.43 (15.61)	Down syndrome	Table_S3	Male DS direct comorbidity
J86	Pyothorax	10	16	11.285	0.000000497	0.00000138	43.37 (19.91)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J90	Pleural effusion. not elsewhere classified	23	154	2.700	0.0000953	0.000316	40.74 (20.81)	Down syndrome	Table_S1	Direct comorbidity
J90	Pleural effusion. not elsewhere classified	11	59	3.558	0.00111	0.00393	40.74 (19.75)	Down syndrome	Table_S3	Female DS direct comorbidity
J90	Pleural effusion. not elsewhere classified	12	86	2.548	0.00788	0.0258	33.51 (21.36)	Down syndrome	Table_S3	Male DS direct comorbidity
J91	Pleural effusion in conditions classified elsewhere	5	11	8.619	0.00128	0.00588	59.61 (23.4)	Turner syndrome	Table_S1	Direct comorbidity
J94	Other pleural conditions	16	65	4.492	0.00000623	0.0000206	0.34 (21.62)	Down syndrome	Table_S1	Direct comorbidity
J94	Other pleural conditions	11	43	4.651	0.000153	0.000501	0.35 (23.5)	Down syndrome	Table_S3	Male DS direct comorbidity
J94	Other pleural conditions	5	4	20.929	0.0000483	0.000134	0.25 (19.97)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J95	Postprocedural respiratory disorders. not elsewhere classified	10	41	4.567	0.000357	0.00118	47 (19.77)	Down syndrome	Table_S1	Direct comorbidity
J95	Postprocedural respiratory disorders. not elsewhere classified	6	17	6.919	0.00103	0.00366	30.75 (19.1)	Down syndrome	Table_S3	Female DS direct comorbidity
J96	Respiratory failure. not elsewhere classified	8	6	22.761	0.0000000872	0.000000439	2.47 (18.15)	Patau syndrome	Table_S1	Direct comorbidity
J96	Respiratory failure. not elsewhere classified	12	21	10.686	0.0000000357	0.000000172	1.87 (10.97)	Edwards syndrome	Table_S1	Direct comorbidity
J96	Respiratory failure. not elsewhere classified	256	753	5.944	0	0	34.54 (25.18)	Down syndrome	Table_S1	Direct comorbidity
J96	Respiratory failure. not elsewhere classified	21	179	1.980	0.00611	0.0369	52 (15.15)	Klinefelter syndrome	Table_S1	Direct comorbidity
J96	Respiratory failure. not elsewhere classified	18	128	2.539	0.00104	0.00478	53.46 (27.73)	Turner syndrome	Table_S1	Direct comorbidity
J96	Respiratory failure. not elsewhere classified	9	4	35.585	0.000000000752	0.00000000184	4.92 (6.52)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
J96	Respiratory failure. not elsewhere classified	5	6	14.277	0.000154	0.000494	2.07 (12.44)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
J96	Respiratory failure. not elsewhere classified	114	315	6.475	0	0	38.7 (25.19)	Down syndrome	Table_S3	Female DS direct comorbidity
J96	Respiratory failure. not elsewhere classified	142	450	5.407	0	0	30.98 (25.15)	Down syndrome	Table_S3	Male DS direct comorbidity
J96	Respiratory failure. not elsewhere classified	97	149	11.395	0	0	4.19 (21.31)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
J98	Other respiratory disorders	80	285	4.939	5.56e-27	1.84e-26	2.71 (20.35)	Down syndrome	Table_S1	Direct comorbidity
J98	Other respiratory disorders	11	49	3.888	0.000585	0.00353	40.53 (22.7)	Klinefelter syndrome	Table_S1	Direct comorbidity
J98	Other respiratory disorders	5	2	33.312	0.00000834	0.0000267	2.69 (5.76)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
J98	Other respiratory disorders	41	108	6.856	1.08e-18	3.82e-18	2.61 (18.21)	Down syndrome	Table_S3	Female DS direct comorbidity
J98	Other respiratory disorders	39	169	4.012	0.0000000000188	0.0000000000616	3.23 (22.05)	Down syndrome	Table_S3	Male DS direct comorbidity
J98	Other respiratory disorders	43	82	9.246	1.37e-23	3.82e-23	1.23 (8.94)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K00	Disorders of tooth development and eruption	128	395	5.681	0	0	16.56 (9.25)	Down syndrome	Table_S1	Direct comorbidity
K00	Disorders of tooth development and eruption	19	76	4.208	0.00000177	0.0000107	16.12 (3.98)	Klinefelter syndrome	Table_S1	Direct comorbidity
K00	Disorders of tooth development and eruption	9	8	18.394	0.0000000566	0.000000531	16.7 (4.29)	XYY syndrome	Table_S1	Direct comorbidity
K00	Disorders of tooth development and eruption	63	166	6.819	5.55e-28	1.97e-27	16.94 (10.2)	Down syndrome	Table_S3	Female DS direct comorbidity
K00	Disorders of tooth development and eruption	65	181	6.184	1.06e-26	3.48e-26	15.84 (8.22)	Down syndrome	Table_S3	Male DS direct comorbidity
K00	Disorders of tooth development and eruption	55	177	5.487	5.29e-21	1.47e-20	16.48 (6.49)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K00	Disorders of tooth development and eruption	6	12	9.094	0.000224	0.00159	15.95 (5.65)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
K01	Embedded and impacted teeth	59	288	3.621	0.00000000000000683	0.0000000000000226	16.7 (11.93)	Down syndrome	Table_S1	Direct comorbidity
K01	Embedded and impacted teeth	12	82	2.700	0.00511	0.0236	16.68 (11.95)	Turner syndrome	Table_S1	Direct comorbidity
K01	Embedded and impacted teeth	26	146	3.268	0.00000147	0.00000523	15.71 (12.38)	Down syndrome	Table_S3	Female DS direct comorbidity
K01	Embedded and impacted teeth	33	182	3.168	0.000000108	0.000000355	19.03 (11.41)	Down syndrome	Table_S3	Male DS direct comorbidity
K01	Embedded and impacted teeth	22	105	3.784	0.00000118	0.00000329	16.44 (11.95)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K01	Embedded and impacted teeth	7	29	4.500	0.00311	0.0222	15.79 (9.08)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
K02	Dental caries	358	333	18.744	0	0	30.88 (18.09)	Down syndrome	Table_S1	Direct comorbidity
K02	Dental caries	27	81	5.532	0.0000000000617	0.000000000372	26 (11.52)	Klinefelter syndrome	Table_S1	Direct comorbidity
K02	Dental caries	13	63	3.771	0.000223	0.00103	22.57 (26.28)	Turner syndrome	Table_S1	Direct comorbidity
K02	Dental caries	5	7	13.344	0.000178	0.000436	14.85 (16.61)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
K02	Dental caries	13	4	46.637	0.0000000000000239	0.0000000000000765	14.6 (9.65)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
K02	Dental caries	12	9	23.337	0.0000000000316	0.0000000000881	15.12 (13.39)	Angelman syndrome	Table_S1	Direct comorbidity
K02	Dental caries	23	11	34.510	4.04e-22	3.9e-21	13.84 (13.66)	Fragile X syndrome	Table_S1	Direct comorbidity
K02	Dental caries	150	136	19.610	0	0	27.81 (17.41)	Down syndrome	Table_S3	Female DS direct comorbidity
K02	Dental caries	208	218	16.274	0	0	31.36 (18.53)	Down syndrome	Table_S3	Male DS direct comorbidity
K02	Dental caries	20	19	17.927	4.54e-16	0.00000000000000367	15.8 (13.66)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
K02	Dental caries	98	109	15.697	0	0	10.88 (13.38)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K03	Other diseases of hard tissues of teeth	28	90	5.557	0.0000000000278	0.000000000092	23.66 (13.27)	Down syndrome	Table_S1	Direct comorbidity
K03	Other diseases of hard tissues of teeth	13	38	6.387	0.00000184	0.00000653	23.62 (11.46)	Down syndrome	Table_S3	Female DS direct comorbidity
K03	Other diseases of hard tissues of teeth	15	48	5.568	0.0000013	0.00000425	23.7 (14.6)	Down syndrome	Table_S3	Male DS direct comorbidity
K03	Other diseases of hard tissues of teeth	8	30	5.064	0.000821	0.00228	15.44 (2.52)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K04	Diseases of pulp and periapical tissues	68	370	3.243	0.00000000000000676	0.0000000000000224	36.29 (15.38)	Down syndrome	Table_S1	Direct comorbidity
K04	Diseases of pulp and periapical tissues	13	65	3.437	0.000504	0.00304	36.53 (13.43)	Klinefelter syndrome	Table_S1	Direct comorbidity
K04	Diseases of pulp and periapical tissues	28	147	3.486	0.000000178	0.000000633	35.55 (16.32)	Down syndrome	Table_S3	Female DS direct comorbidity
K04	Diseases of pulp and periapical tissues	40	202	3.444	0.000000000557	0.00000000183	37.83 (14.63)	Down syndrome	Table_S3	Male DS direct comorbidity
K04	Diseases of pulp and periapical tissues	17	69	4.485	0.00000299	0.0000083	30.9 (12.42)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K05	Gingivitis and periodontal diseases	118	263	7.861	0	0	38.3 (14.06)	Down syndrome	Table_S1	Direct comorbidity
K05	Gingivitis and periodontal diseases	14	59	4.050	0.0000653	0.000395	37.62 (16.65)	Klinefelter syndrome	Table_S1	Direct comorbidity
K05	Gingivitis and periodontal diseases	64	114	10.056	4.31e-36	1.53e-35	35.51 (13.98)	Down syndrome	Table_S3	Female DS direct comorbidity
K05	Gingivitis and periodontal diseases	54	180	5.182	1.78e-19	5.83e-19	40.98 (14.1)	Down syndrome	Table_S3	Male DS direct comorbidity
K05	Gingivitis and periodontal diseases	20	50	7.182	0.000000000477	0.00000000132	25.68 (11.74)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K07	Dentofacial anomalies [including malocclusion]	75	721	1.836	0.000003	0.00000994	15.84 (8.02)	Down syndrome	Table_S1	Direct comorbidity
K07	Dentofacial anomalies [including malocclusion]	32	122	4.347	0.000000000195	0.00000000118	18.75 (6.37)	Klinefelter syndrome	Table_S1	Direct comorbidity
K07	Dentofacial anomalies [including malocclusion]	31	235	2.337	0.0000585	0.000269	18.66 (12.12)	Turner syndrome	Table_S1	Direct comorbidity
K07	Dentofacial anomalies [including malocclusion]	6	10	11.322	0.0000742	0.000182	12.7 (4.64)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
K07	Dentofacial anomalies [including malocclusion]	35	384	1.664	0.00581	0.0206	15.8 (5.42)	Down syndrome	Table_S3	Female DS direct comorbidity
K07	Dentofacial anomalies [including malocclusion]	40	292	2.386	0.0000035	0.0000115	15.92 (9.73)	Down syndrome	Table_S3	Male DS direct comorbidity
K07	Dentofacial anomalies [including malocclusion]	25	216	2.090	0.00142	0.00395	14.78 (4.2)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K07	Dentofacial anomalies [including malocclusion]	13	74	3.150	0.000886	0.00631	17.94 (9.29)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
K08	Other disorders of teeth and supporting structures	99	288	6.034	4.09e-39	1.36e-38	41.2 (17.92)	Down syndrome	Table_S1	Direct comorbidity
K08	Other disorders of teeth and supporting structures	44	129	6.159	1.63e-18	5.8e-18	43.1 (17.41)	Down syndrome	Table_S3	Female DS direct comorbidity
K08	Other disorders of teeth and supporting structures	55	158	6.006	2.77e-22	9.1e-22	39.83 (18.19)	Down syndrome	Table_S3	Male DS direct comorbidity
K08	Other disorders of teeth and supporting structures	27	68	7.078	0.000000000000508	0.00000000000141	22.76 (16.76)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K09	Cysts of oral region. not elsewhere classified	8	33	4.710	0.00124	0.00441	13.42 (29.86)	Down syndrome	Table_S3	Female DS direct comorbidity
K12	Stomatitis and related lesions	39	194	3.577	0.00000000038	0.00000000126	5.63 (20.06)	Down syndrome	Table_S1	Direct comorbidity
K12	Stomatitis and related lesions	18	82	4.073	0.00000498	0.0000177	5.99 (18.64)	Down syndrome	Table_S3	Female DS direct comorbidity
K12	Stomatitis and related lesions	21	98	3.789	0.00000223	0.00000732	5.63 (21.18)	Down syndrome	Table_S3	Male DS direct comorbidity
K12	Stomatitis and related lesions	18	58	5.617	0.0000000872	0.000000242	2.93 (7.29)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K13	Other diseases of lip and oral mucosa	29	147	3.535	0.0000000908	0.000000301	48.84 (18.89)	Down syndrome	Table_S1	Direct comorbidity
K13	Other diseases of lip and oral mucosa	13	75	3.277	0.000746	0.00265	35.13 (17.89)	Down syndrome	Table_S3	Female DS direct comorbidity
K13	Other diseases of lip and oral mucosa	16	73	3.917	0.0000275	0.0000902	49.58 (19.42)	Down syndrome	Table_S3	Male DS direct comorbidity
K13	Other diseases of lip and oral mucosa	6	30	3.938	0.012	0.0333	20.92 (23.55)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K14	Diseases of tongue	12	56	3.977	0.00027	0.000893	33.18 (18.78)	Down syndrome	Table_S1	Direct comorbidity
K14	Diseases of tongue	7	19	7.117	0.000318	0.00113	38.76 (12.97)	Down syndrome	Table_S3	Female DS direct comorbidity
K14	Diseases of tongue	5	17	5.684	0.00617	0.0202	6.73 (24.04)	Down syndrome	Table_S3	Male DS direct comorbidity
K20	Oesophagitis	30	331	1.628	0.0141	0.0467	42.64 (20.99)	Down syndrome	Table_S1	Direct comorbidity
K20	Oesophagitis	14	83	2.893	0.00136	0.00823	44.9 (14.91)	Klinefelter syndrome	Table_S1	Direct comorbidity
K20	Oesophagitis	12	68	3.286	0.00119	0.0033	16.27 (21.95)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K21	Gastro-oesophageal reflux disease	31	280	1.845	0.00228	0.0137	41.56 (12.82)	Klinefelter syndrome	Table_S1	Direct comorbidity
K21	Gastro-oesophageal reflux disease	6	8	13.839	0.0000301	0.0000739	8.65 (4.75)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
K21	Gastro-oesophageal reflux disease	5	11	8.328	0.00118	0.00377	3.06 (16.76)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
K21	Gastro-oesophageal reflux disease	6	18	6.614	0.000999	0.00278	0.5 (0.63)	Angelman syndrome	Table_S1	Direct comorbidity
K22	Other diseases of oesophagus	41	293	2.491	0.00000106	0.0000035	47.7 (19.97)	Down syndrome	Table_S1	Direct comorbidity
K22	Other diseases of oesophagus	10	46	4.034	0.00082	0.00378	49.75 (16.83)	Turner syndrome	Table_S1	Direct comorbidity
K22	Other diseases of oesophagus	13	98	2.516	0.00608	0.0215	48.21 (25.49)	Down syndrome	Table_S3	Female DS direct comorbidity
K22	Other diseases of oesophagus	28	194	2.536	0.0000427	0.00014	45.64 (16.78)	Down syndrome	Table_S3	Male DS direct comorbidity
K22	Other diseases of oesophagus	9	57	3.007	0.00888	0.0247	27.15 (19.99)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K25	Gastric ulcer	17	84	3.431	0.0000644	0.000389	47.39 (11.49)	Klinefelter syndrome	Table_S1	Direct comorbidity
K27	Peptic ulcer. site unspecified	8	44	3.558	0.00584	0.0207	48.71 (14.31)	Down syndrome	Table_S3	Female DS direct comorbidity
K29	Gastritis and duodenitis	30	246	2.033	0.00068	0.00411	48.46 (13.13)	Klinefelter syndrome	Table_S1	Direct comorbidity
K30	Dyspepsia	26	227	1.919	0.0033	0.0199	41.13 (13.36)	Klinefelter syndrome	Table_S1	Direct comorbidity
K30	Dyspepsia	6	319	0.377	0.00184	0.00784	44.07 (15.22)	Turner syndrome	Table_S2	Inverse comorbidity
K31	Other diseases of stomach and duodenum	19	112	3.087	0.0000866	0.000287	26.28 (21.08)	Down syndrome	Table_S1	Direct comorbidity
K31	Other diseases of stomach and duodenum	11	39	5.338	0.0000506	0.00018	42.95 (23.84)	Down syndrome	Table_S3	Female DS direct comorbidity
K31	Other diseases of stomach and duodenum	8	18	8.262	0.0000468	0.00013	14.53 (17.35)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K35	Acute appendicitis	34	1506	0.405	0.000000000385	0.000000000896	31.04 (17.18)	Down syndrome	Table_S2	Inverse comorbidity
K35	Acute appendicitis	13	649	0.383	0.0000215	0.0000563	34.63 (16.02)	Down syndrome	Table_S4	Female DS inverse comorbidity
K35	Acute appendicitis	21	805	0.465	0.0000396	0.0000999	23.32 (17)	Down syndrome	Table_S4	Male DS inverse comorbidity
K35	Acute appendicitis	13	514	0.472	0.00121	0.00309	13.63 (13.57)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
K40	Inguinal hernia	9	49	3.311	0.00376	0.0353	3.63 (16.65)	XYY syndrome	Table_S1	Direct comorbidity
K43	Ventral hernia	69	455	2.677	0.0000000000124	0.000000000041	40.5 (18.6)	Down syndrome	Table_S1	Direct comorbidity
K43	Ventral hernia	23	195	2.179	0.0014	0.00496	46.87 (16.64)	Down syndrome	Table_S3	Female DS direct comorbidity
K43	Ventral hernia	46	187	4.263	0.0000000000000423	0.000000000000139	35.61 (18.93)	Down syndrome	Table_S3	Male DS direct comorbidity
K43	Ventral hernia	13	63	3.815	0.000202	0.000562	7.96 (18.71)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K44	Diaphragmatic hernia	20	811	0.451	0.0000276	0.0000643	51.95 (25.78)	Down syndrome	Table_S2	Inverse comorbidity
K44	Diaphragmatic hernia	8	379	0.421	0.00196	0.00515	51.95 (29.36)	Down syndrome	Table_S4	Female DS inverse comorbidity
K45	Other abdominal hernia	21	123	3.094	0.0000348	0.000115	29.56 (16.47)	Down syndrome	Table_S1	Direct comorbidity
K45	Other abdominal hernia	14	67	3.762	0.000133	0.000437	30.57 (13.63)	Down syndrome	Table_S3	Male DS direct comorbidity
K45	Other abdominal hernia	8	31	4.905	0.000985	0.00274	14.19 (14.3)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K46	Unspecified abdominal hernia	13	45	5.307	0.0000108	0.0000357	34.56 (19.65)	Down syndrome	Table_S1	Direct comorbidity
K46	Unspecified abdominal hernia	5	20	5.083	0.00919	0.0326	29.06 (20.25)	Down syndrome	Table_S3	Female DS direct comorbidity
K46	Unspecified abdominal hernia	8	22	6.673	0.000169	0.000556	42.96 (17.13)	Down syndrome	Table_S3	Male DS direct comorbidity
K52	Other noninfective gastroenteritis and colitis	72	755	1.684	0.0000626	0.000207	35.56 (21.42)	Down syndrome	Table_S1	Direct comorbidity
K52	Other noninfective gastroenteritis and colitis	5	10	9.705	0.000599	0.00147	3.59 (2.49)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
K52	Other noninfective gastroenteritis and colitis	44	395	1.938	0.000114	0.000375	32.9 (21.3)	Down syndrome	Table_S3	Male DS direct comorbidity
K52	Other noninfective gastroenteritis and colitis	23	203	2.052	0.00276	0.00766	8.62 (15.36)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K56	Paralytic ileus and intestinal obstruction without hernia	14	80	3.230	0.000516	0.00143	1.43 (15.2)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K57	Diverticular disease of intestine	16	904	0.328	0.0000000177	0.0000000412	57.07 (11.8)	Down syndrome	Table_S2	Inverse comorbidity
K57	Diverticular disease of intestine	9	462	0.384	0.000262	0.000689	55.51 (15.4)	Down syndrome	Table_S4	Female DS inverse comorbidity
K57	Diverticular disease of intestine	7	451	0.302	0.0000197	0.0000498	58.42 (3.38)	Down syndrome	Table_S4	Male DS inverse comorbidity
K58	Irritable bowel syndrome	11	431	0.494	0.0052	0.0137	30.35 (18.21)	Down syndrome	Table_S4	Female DS inverse comorbidity
K59	Other functional intestinal disorders	259	2255	2.010	2.15e-23	7.13e-23	19.76 (24.02)	Down syndrome	Table_S1	Direct comorbidity
K59	Other functional intestinal disorders	48	374	2.117	0.00000562	0.0000339	37.75 (21.76)	Klinefelter syndrome	Table_S1	Direct comorbidity
K59	Other functional intestinal disorders	11	44	4.804	0.0000543	0.000601	7.82 (8.94)	Triple X syndrome	Table_S1	Direct comorbidity
K59	Other functional intestinal disorders	6	33	3.663	0.0121	0.0296	7.86 (15.05)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
K59	Other functional intestinal disorders	14	41	5.949	0.000000412	0.00000132	7.43 (14.77)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
K59	Other functional intestinal disorders	9	58	3.043	0.00608	0.0169	14.34 (17.54)	Angelman syndrome	Table_S1	Direct comorbidity
K59	Other functional intestinal disorders	115	1250	1.650	0.00000068	0.00000241	20.28 (24.66)	Down syndrome	Table_S3	Female DS direct comorbidity
K59	Other functional intestinal disorders	144	1019	2.424	8.03e-20	2.63e-19	19.38 (23.48)	Down syndrome	Table_S3	Male DS direct comorbidity
K59	Other functional intestinal disorders	107	665	2.828	1.42e-19	3.95e-19	5.38 (18.43)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K61	Abscess of anal and rectal regions	8	332	0.461	0.0081	0.0205	33.54 (15.72)	Down syndrome	Table_S4	Male DS inverse comorbidity
K62	Other diseases of anus and rectum	50	500	1.736	0.000432	0.00142	42.46 (18.29)	Down syndrome	Table_S3	Male DS direct comorbidity
K62	Other diseases of anus and rectum	23	180	2.313	0.00066	0.00184	16.18 (22.6)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K63	Other diseases of intestine	6	29	4.070	0.0105	0.0291	6.56 (7.9)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K64	Haemorrhoids and perianal venous thrombosis	7	377	0.369	0.000622	0.00145	44.97 (15.59)	Down syndrome	Table_S2	Inverse comorbidity
K73	Chronic hepatitis. not elsewhere classified	9	48	3.559	0.00339	0.0112	40.22 (12)	Down syndrome	Table_S1	Direct comorbidity
K73	Chronic hepatitis. not elsewhere classified	7	11	11.492	0.0000268	0.000123	37.37 (12.21)	Turner syndrome	Table_S1	Direct comorbidity
K73	Chronic hepatitis. not elsewhere classified	7	17	7.908	0.000184	0.000652	43.58 (5.76)	Down syndrome	Table_S3	Female DS direct comorbidity
K74	Fibrosis and cirrhosis of liver	7	25	5.304	0.00145	0.00667	55.45 (10.75)	Turner syndrome	Table_S1	Direct comorbidity
K76	Other diseases of liver	16	67	4.309	0.0000092	0.0000424	51.64 (18.83)	Turner syndrome	Table_S1	Direct comorbidity
K80	Cholelithiasis	42	201	3.449	0.000000000148	0.000000000893	43.7 (14.21)	Klinefelter syndrome	Table_S1	Direct comorbidity
K80	Cholelithiasis	30	1243	0.443	0.000000137	0.000000359	44.04 (13.26)	Down syndrome	Table_S4	Female DS inverse comorbidity
K81	Cholecystitis	10	44	3.960	0.000949	0.00573	41.04 (15.46)	Klinefelter syndrome	Table_S1	Direct comorbidity
K83	Other diseases of biliary tract	19	150	2.310	0.00214	0.0071	45 (20.78)	Down syndrome	Table_S1	Direct comorbidity
K83	Other diseases of biliary tract	12	76	3.004	0.00237	0.0084	44.29 (21.27)	Down syndrome	Table_S3	Female DS direct comorbidity
K83	Other diseases of biliary tract	5	16	6.156	0.00453	0.0126	0.93 (26.8)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K85	Acute pancreatitis	6	317	0.384	0.00196	0.00457	57.75 (18.7)	Down syndrome	Table_S2	Inverse comorbidity
K90	Intestinal malabsorption	127	165	13.447	0	0	18.49 (19.41)	Down syndrome	Table_S1	Direct comorbidity
K90	Intestinal malabsorption	25	45	9.743	0.0000000000000124	0.0000000000000573	24.65 (18.28)	Turner syndrome	Table_S1	Direct comorbidity
K90	Intestinal malabsorption	52	105	8.896	1.4e-27	4.96e-27	18.03 (20.36)	Down syndrome	Table_S3	Female DS direct comorbidity
K90	Intestinal malabsorption	75	53	23.999	0	0	18.49 (18.68)	Down syndrome	Table_S3	Male DS direct comorbidity
K90	Intestinal malabsorption	60	42	24.742	0	0	13.1 (13.72)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K90	Intestinal malabsorption	9	18	8.882	0.0000084	0.0000599	16.65 (12.23)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
K91	Postprocedural disorders of digestive system. not elsewhere classified	9	41	4.060	0.00153	0.005	0.85 (6.08)	Down syndrome	Table_S3	Male DS direct comorbidity
K91	Postprocedural disorders of digestive system. not elsewhere classified	8	11	13.081	0.00000318	0.00000883	1.17 (4.53)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
K92	Other diseases of digestive system	64	558	2.028	0.000000873	0.00000289	49.83 (19.79)	Down syndrome	Table_S1	Direct comorbidity
K92	Other diseases of digestive system	20	142	2.379	0.00112	0.00674	37.82 (14.55)	Klinefelter syndrome	Table_S1	Direct comorbidity
K92	Other diseases of digestive system	28	196	2.619	0.0000245	0.0000868	49.18 (21.34)	Down syndrome	Table_S3	Female DS direct comorbidity
K92	Other diseases of digestive system	36	337	1.867	0.000909	0.00298	50.12 (18.18)	Down syndrome	Table_S3	Male DS direct comorbidity
K92	Other diseases of digestive system	19	88	3.919	0.00000428	0.0000119	30.83 (25.61)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L01	Impetigo	31	179	3.100	0.000000421	0.0000014	6.57 (12)	Down syndrome	Table_S1	Direct comorbidity
L01	Impetigo	20	90	4.106	0.00000128	0.00000455	8.59 (10.16)	Down syndrome	Table_S3	Female DS direct comorbidity
L01	Impetigo	18	74	4.418	0.0000018	0.000005	6.36 (8.36)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L02	Cutaneous abscess. furuncle and carbuncle	147	1381	1.868	0.000000000016	0.0000000000529	29.83 (17.86)	Down syndrome	Table_S1	Direct comorbidity
L02	Cutaneous abscess. furuncle and carbuncle	40	368	1.800	0.000785	0.00474	38.41 (14.26)	Klinefelter syndrome	Table_S1	Direct comorbidity
L02	Cutaneous abscess. furuncle and carbuncle	5	18	5.260	0.00671	0.0215	18.05 (16.28)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
L02	Cutaneous abscess. furuncle and carbuncle	62	562	1.991	0.00000185	0.00000656	28.12 (18.24)	Down syndrome	Table_S3	Female DS direct comorbidity
L02	Cutaneous abscess. furuncle and carbuncle	85	851	1.721	0.00000555	0.0000182	34.21 (17.48)	Down syndrome	Table_S3	Male DS direct comorbidity
L02	Cutaneous abscess. furuncle and carbuncle	9	53	3.162	0.00575	0.0465	21.08 (15.28)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
L02	Cutaneous abscess. furuncle and carbuncle	46	365	2.240	0.00000252	0.000007	18.12 (15.35)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L03	Cellulitis	111	746	2.615	2.69e-17	8.91e-17	21.83 (19.83)	Down syndrome	Table_S1	Direct comorbidity
L03	Cellulitis	7	29	4.601	0.00273	0.0263	14.99 (10.07)	Fragile X syndrome	Table_S1	Direct comorbidity
L03	Cellulitis	46	290	2.874	0.00000000429	0.0000000152	17.48 (21.07)	Down syndrome	Table_S3	Female DS direct comorbidity
L03	Cellulitis	65	441	2.546	0.000000000266	0.000000000872	22.11 (18.84)	Down syndrome	Table_S3	Male DS direct comorbidity
L03	Cellulitis	39	168	4.128	0.00000000000703	0.0000000000195	8.48 (15.49)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L08	Other local infections of skin and subcutaneous tissue	70	726	1.703	0.0000578	0.000191	19.48 (19.68)	Down syndrome	Table_S1	Direct comorbidity
L08	Other local infections of skin and subcutaneous tissue	5	9	10.675	0.000416	0.00102	6.68 (14.32)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
L08	Other local infections of skin and subcutaneous tissue	33	328	1.839	0.00183	0.00648	32.26 (20.75)	Down syndrome	Table_S3	Female DS direct comorbidity
L08	Other local infections of skin and subcutaneous tissue	41	206	3.539	0.000000000131	0.000000000363	13.07 (16.08)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L20	Atopic dermatitis	22	199	2.006	0.00439	0.0122	4.88 (10.49)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L21	Seborrhoeic dermatitis	15	104	2.657	0.00199	0.0066	25.85 (16.56)	Down syndrome	Table_S1	Direct comorbidity
L21	Seborrhoeic dermatitis	12	81	2.703	0.0052	0.017	23.69 (16.71)	Down syndrome	Table_S3	Male DS direct comorbidity
L27	Dermatitis due to substances taken internally	5	13	7.475	0.00218	0.00607	3.46 (12.73)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L30	Other dermatitis	21	114	3.337	0.0000118	0.0000329	11.25 (8.98)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L40	Psoriasis	15	87	3.134	0.000422	0.00194	27.95 (14.84)	Turner syndrome	Table_S1	Direct comorbidity
L40	Psoriasis	9	57	3.007	0.00888	0.0247	30.54 (15.91)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L40	Psoriasis	8	23	6.329	0.000208	0.00148	27.19 (10.54)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
L50	Urticaria	16	123	2.221	0.00668	0.0403	29.73 (16.02)	Klinefelter syndrome	Table_S1	Direct comorbidity
L50	Urticaria	7	325	0.437	0.00628	0.0165	15.82 (10.99)	Down syndrome	Table_S4	Female DS inverse comorbidity
L52	Erythema nodosum	13	47	5.086	0.000016	0.0000529	9.47 (8.67)	Down syndrome	Table_S1	Direct comorbidity
L52	Erythema nodosum	9	29	5.931	0.000133	0.000471	9.47 (9.77)	Down syndrome	Table_S3	Female DS direct comorbidity
L52	Erythema nodosum	7	11	11.627	0.0000251	0.0000697	9.02 (10.83)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L60	Nail disorders	16	71	4.070	0.0000172	0.000079	13.23 (15.08)	Turner syndrome	Table_S1	Direct comorbidity
L60	Nail disorders	9	30	5.566	0.000176	0.0017	31.41 (18.76)	Fragile X syndrome	Table_S1	Direct comorbidity
L60	Nail disorders	9	25	6.567	0.0000554	0.000449	31.41 (18.76)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
L63	Alopecia areata	11	37	5.507	0.0000409	0.000135	8.58 (9.67)	Down syndrome	Table_S1	Direct comorbidity
L63	Alopecia areata	5	15	6.672	0.00334	0.0119	6.07 (1.64)	Down syndrome	Table_S3	Female DS direct comorbidity
L63	Alopecia areata	6	15	7.460	0.000752	0.00247	16.58 (9.38)	Down syndrome	Table_S3	Male DS direct comorbidity
L63	Alopecia areata	6	2	40.696	0.000000633	0.00000176	10.88 (12.1)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L65	Other nonscarring hair loss	6	12	9.390	0.000266	0.000881	14.51 (15.37)	Down syndrome	Table_S1	Direct comorbidity
L66	Cicatricial alopecia [scarring hair loss]	5	5	17.237	0.000097	0.000447	36.53 (13.13)	Turner syndrome	Table_S1	Direct comorbidity
L70	Acne	6	24	4.536	0.00669	0.0404	23.18 (11.04)	Klinefelter syndrome	Table_S1	Direct comorbidity
L70	Acne	7	35	3.876	0.00683	0.019	15.34 (12.41)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L73	Other follicular disorders	44	150	5.197	4.25e-16	0.00000000000000141	20.39 (10.76)	Down syndrome	Table_S1	Direct comorbidity
L73	Other follicular disorders	22	83	4.872	0.0000000275	0.0000000976	22.58 (12.2)	Down syndrome	Table_S3	Female DS direct comorbidity
L73	Other follicular disorders	22	76	5.094	0.000000015	0.0000000492	19.77 (8.31)	Down syndrome	Table_S3	Male DS direct comorbidity
L73	Other follicular disorders	19	40	8.508	0.00000000013	0.000000000362	21.22 (7.58)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L89	Decubitus ulcer	41	150	4.851	0.0000000000000308	0.000000000000102	58.89 (9.25)	Down syndrome	Table_S1	Direct comorbidity
L89	Decubitus ulcer	17	40	7.811	0.00000000364	0.0000000129	59.93 (6.6)	Down syndrome	Table_S3	Female DS direct comorbidity
L89	Decubitus ulcer	24	83	5.075	0.00000000343	0.0000000112	56.95 (9.99)	Down syndrome	Table_S3	Male DS direct comorbidity
L89	Decubitus ulcer	9	17	9.689	0.00000522	0.0000145	59.05 (15.97)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
L90	Atrophic disorders of skin	9	487	0.357	0.0000867	0.000202	23.9 (16.35)	Down syndrome	Table_S2	Inverse comorbidity
L90	Atrophic disorders of skin	6	341	0.364	0.00105	0.00274	23.15 (17.46)	Down syndrome	Table_S4	Female DS inverse comorbidity
L97	Ulcer of lower limb. not elsewhere classified	18	42	7.159	0.00000000417	0.0000000252	55.16 (9.85)	Klinefelter syndrome	Table_S1	Direct comorbidity
L98	Other disorders of skin and subcutaneous tissue. not elsewhere classified	31	310	1.794	0.00367	0.0122	34.23 (22.44)	Down syndrome	Table_S1	Direct comorbidity
M05	Seropositive rheumatoid arthritis	6	266	0.457	0.0149	0.0348	42.99 (7.89)	Down syndrome	Table_S2	Inverse comorbidity
M08	Juvenile arthritis	7	34	3.940	0.00631	0.0291	22.06 (12.1)	Turner syndrome	Table_S1	Direct comorbidity
M10	Gout	51	335	2.699	0.00000000489	0.0000000162	46.69 (11.64)	Down syndrome	Table_S1	Direct comorbidity
M10	Gout	13	54	4.529	0.0000444	0.000157	48.05 (16.31)	Down syndrome	Table_S3	Female DS direct comorbidity
M10	Gout	38	244	2.714	0.000000392	0.00000129	45.7 (9.24)	Down syndrome	Table_S3	Male DS direct comorbidity
M10	Gout	10	47	3.997	0.000875	0.00243	47.37 (14.02)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
M16	Coxarthrosis [arthrosis of hip]	27	217	2.214	0.000398	0.00183	53.82 (11.07)	Turner syndrome	Table_S1	Direct comorbidity
M16	Coxarthrosis [arthrosis of hip]	42	425	1.796	0.000666	0.00236	44.16 (10.71)	Down syndrome	Table_S3	Female DS direct comorbidity
M16	Coxarthrosis [arthrosis of hip]	18	156	2.111	0.00638	0.0177	36.22 (13.3)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
M16	Coxarthrosis [arthrosis of hip]	8	30	4.900	0.00092	0.00655	53.36 (10.97)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
M17	Gonarthrosis [arthrosis of knee]	42	314	2.212	0.00000886	0.0000535	55.19 (10.99)	Klinefelter syndrome	Table_S1	Direct comorbidity
M17	Gonarthrosis [arthrosis of knee]	36	2122	0.304	2.14e-19	4.98e-19	48.58 (7.73)	Down syndrome	Table_S2	Inverse comorbidity
M17	Gonarthrosis [arthrosis of knee]	16	1016	0.297	0.000000000321	0.000000000842	47.94 (6.58)	Down syndrome	Table_S4	Female DS inverse comorbidity
M17	Gonarthrosis [arthrosis of knee]	20	1084	0.330	0.000000000477	0.0000000012	48.68 (8.43)	Down syndrome	Table_S4	Male DS inverse comorbidity
M19	Other arthrosis	19	1076	0.324	0.000000000604	0.00000000141	51.55 (12.28)	Down syndrome	Table_S2	Inverse comorbidity
M19	Other arthrosis	13	524	0.474	0.00128	0.00336	53.95 (10.56)	Down syndrome	Table_S4	Female DS inverse comorbidity
M19	Other arthrosis	6	552	0.216	0.0000000588	0.000000149	42.42 (10.04)	Down syndrome	Table_S4	Male DS inverse comorbidity
M20	Acquired deformities of fingers and toes	136	991	2.408	3.21e-18	1.06e-17	43.67 (15.27)	Down syndrome	Table_S1	Direct comorbidity
M20	Acquired deformities of fingers and toes	17	87	3.314	0.000094	0.000568	28.7 (11.93)	Klinefelter syndrome	Table_S1	Direct comorbidity
M20	Acquired deformities of fingers and toes	71	633	2.021	0.000000192	0.00000068	41.28 (16.23)	Down syndrome	Table_S3	Female DS direct comorbidity
M20	Acquired deformities of fingers and toes	65	259	4.329	1.02e-19	3.35e-19	44.68 (13.42)	Down syndrome	Table_S3	Male DS direct comorbidity
M20	Acquired deformities of fingers and toes	32	159	3.597	0.000000011	0.0000000306	27.46 (20.16)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
M21	Other acquired deformities of limbs	167	604	4.843	0	0	15.51 (17.87)	Down syndrome	Table_S1	Direct comorbidity
M21	Other acquired deformities of limbs	21	82	4.294	0.000000363	0.00000219	27.78 (18.82)	Klinefelter syndrome	Table_S1	Direct comorbidity
M21	Other acquired deformities of limbs	20	178	2.022	0.00607	0.028	20.22 (20.13)	Turner syndrome	Table_S1	Direct comorbidity
M21	Other acquired deformities of limbs	5	13	7.625	0.00152	0.00372	3.25 (5.98)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
M21	Other acquired deformities of limbs	9	12	12.812	0.000000454	0.00000146	23.51 (16.09)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
M21	Other acquired deformities of limbs	13	10	22.847	0.00000000000524	0.0000000000146	6.39 (3.85)	Angelman syndrome	Table_S1	Direct comorbidity
M21	Other acquired deformities of limbs	81	319	4.559	1.03e-25	3.65e-25	15.42 (16.37)	Down syndrome	Table_S3	Female DS direct comorbidity
M21	Other acquired deformities of limbs	86	279	5.298	6.24e-31	2.05e-30	15.55 (19.02)	Down syndrome	Table_S3	Male DS direct comorbidity
M21	Other acquired deformities of limbs	67	139	8.471	2.24e-34	6.22e-34	11.99 (10.96)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
M23	Internal derangement of knee	65	4194	0.274	3.42996e-41	7.99006e-41	32.42 (15.69)	Down syndrome	Table_S2	Inverse comorbidity
M23	Internal derangement of knee	23	1751	0.244	9.64e-20	2.53e-19	29.4 (14.41)	Down syndrome	Table_S4	Female DS inverse comorbidity
M23	Internal derangement of knee	42	2380	0.308	3.74e-22	9.45e-22	32.64 (16.23)	Down syndrome	Table_S4	Male DS inverse comorbidity
M23	Internal derangement of knee	23	907	0.458	0.0000106	0.0000269	26.78 (16.68)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
M24	Other specific joint derangements	10	407	0.460	0.00333	0.0084	14.12 (15.38)	Down syndrome	Table_S4	Male DS inverse comorbidity
M25	Other joint disorders. not elsewhere classified	5	247	0.420	0.0111	0.0282	33.75 (16.23)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
M35	Other systemic involvement of connective tissue	69	504	2.417	0.000000000644	0.00000000213	4.5 (13.62)	Down syndrome	Table_S1	Direct comorbidity
M35	Other systemic involvement of connective tissue	9	19	8.627	0.00000967	0.0000933	2.05 (23.55)	Fragile X syndrome	Table_S1	Direct comorbidity
M35	Other systemic involvement of connective tissue	39	329	2.157	0.0000355	0.000126	4.67 (14.8)	Down syndrome	Table_S3	Female DS direct comorbidity
M35	Other systemic involvement of connective tissue	30	116	4.518	0.000000000387	0.00000000127	4.29 (11.65)	Down syndrome	Table_S3	Male DS direct comorbidity
M35	Other systemic involvement of connective tissue	5	13	7.317	0.00219	0.0177	1.85 (28.25)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
M35	Other systemic involvement of connective tissue	39	122	5.672	0.00000000000000131	0.00000000000000364	4.22 (7.77)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
M41	Scoliosis	6	12	9.532	0.000185	0.000929	13.78 (13.98)	Patau syndrome	Table_S1	Direct comorbidity
M41	Scoliosis	7	29	4.823	0.00208	0.01	11.53 (11.67)	Edwards syndrome	Table_S1	Direct comorbidity
M41	Scoliosis	69	408	2.985	0.000000000000146	0.000000000000483	14.83 (15.13)	Down syndrome	Table_S1	Direct comorbidity
M41	Scoliosis	18	64	4.736	0.000000789	0.00000476	15.48 (7.6)	Klinefelter syndrome	Table_S1	Direct comorbidity
M41	Scoliosis	19	115	2.972	0.000125	0.000578	15.87 (15.32)	Turner syndrome	Table_S1	Direct comorbidity
M41	Scoliosis	7	11	11.104	0.0000216	0.0000692	16.2 (6.42)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
M41	Scoliosis	18	2	113.691	1.65e-22	4.61e-22	10.74 (6.24)	Angelman syndrome	Table_S1	Direct comorbidity
M41	Scoliosis	36	243	2.698	0.000000857	0.00000304	14.83 (15.75)	Down syndrome	Table_S3	Female DS direct comorbidity
M41	Scoliosis	33	171	3.371	0.0000000299	0.0000000979	14.93 (14.38)	Down syndrome	Table_S3	Male DS direct comorbidity
M41	Scoliosis	35	150	4.158	0.0000000000745	0.000000000207	14.07 (10.21)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
M42	Spinal osteochondrosis	5	16	6.084	0.00474	0.0218	15.9 (7.56)	Turner syndrome	Table_S1	Direct comorbidity
M43	Other deforming dorsopathies	11	76	2.718	0.00717	0.0199	19.56 (13.26)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
M47	Spondylosis	16	792	0.374	0.00000145	0.00000339	51.52 (10.35)	Down syndrome	Table_S2	Inverse comorbidity
M47	Spondylosis	8	352	0.454	0.00609	0.016	52.79 (10.74)	Down syndrome	Table_S4	Female DS inverse comorbidity
M47	Spondylosis	8	415	0.369	0.000353	0.000892	51.29 (9.9)	Down syndrome	Table_S4	Male DS inverse comorbidity
M48	Other spondylopathies	14	656	0.398	0.0000232	0.0000542	52.88 (9.46)	Down syndrome	Table_S2	Inverse comorbidity
M48	Other spondylopathies	6	327	0.380	0.00193	0.00506	54.58 (5.64)	Down syndrome	Table_S4	Female DS inverse comorbidity
M48	Other spondylopathies	8	343	0.446	0.00456	0.0115	49.51 (11.1)	Down syndrome	Table_S4	Male DS inverse comorbidity
M50	Cervical disc disorders	5	754	0.139	0.00000000000118	0.00000000000276	48.84 (14.24)	Down syndrome	Table_S2	Inverse comorbidity
M50	Cervical disc disorders	5	369	0.277	0.0000539	0.000136	48.84 (14.24)	Down syndrome	Table_S4	Male DS inverse comorbidity
M51	Other intervertebral disc disorders	9	2239	0.078	2.39062e-42	5.57016e-42	41.6 (6.72)	Down syndrome	Table_S2	Inverse comorbidity
M51	Other intervertebral disc disorders	10	492	0.385	0.000132	0.000566	46.99 (13.41)	Turner syndrome	Table_S2	Inverse comorbidity
M51	Other intervertebral disc disorders	9	979	0.182	0.00000000000006	0.000000000000158	41.6 (6.72)	Down syndrome	Table_S4	Female DS inverse comorbidity
M53	Other dorsopathies. not elsewhere classified	9	409	0.425	0.00153	0.00356	13.98 (19.51)	Down syndrome	Table_S2	Inverse comorbidity
M54	Dorsalgia	86	851	1.654	0.0000116	0.0000702	35.62 (13.85)	Klinefelter syndrome	Table_S1	Direct comorbidity
M54	Dorsalgia	40	3590	0.199	4.2039e-45	9.80909e-45	37.85 (15.35)	Down syndrome	Table_S2	Inverse comorbidity
M54	Dorsalgia	13	1683	0.148	1.49e-25	3.91e-25	44.13 (9.93)	Down syndrome	Table_S4	Female DS inverse comorbidity
M54	Dorsalgia	27	1851	0.258	1.62e-20	4.1e-20	36.96 (17.16)	Down syndrome	Table_S4	Male DS inverse comorbidity
M54	Dorsalgia	12	689	0.327	0.000000638	0.00000163	37.35 (15.25)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
M62	Other disorders of muscle	41	381	1.781	0.000811	0.0049	38.8 (15.58)	Klinefelter syndrome	Table_S1	Direct comorbidity
M62	Other disorders of muscle	6	23	4.828	0.00421	0.0396	14.09 (5.07)	XYY syndrome	Table_S1	Direct comorbidity
M62	Other disorders of muscle	40	1863	0.384	0.000000000000383	0.000000000000893	36.96 (14.47)	Down syndrome	Table_S2	Inverse comorbidity
M62	Other disorders of muscle	14	612	0.422	0.000072	0.000308	28.59 (14.03)	Turner syndrome	Table_S2	Inverse comorbidity
M62	Other disorders of muscle	17	1100	0.291	0.0000000000384	0.000000000101	31.21 (17.54)	Down syndrome	Table_S4	Female DS inverse comorbidity
M62	Other disorders of muscle	23	818	0.500	0.000123	0.00031	37.66 (11.15)	Down syndrome	Table_S4	Male DS inverse comorbidity
M65	Synovitis and tenosynovitis	30	294	1.702	0.00765	0.0462	42.84 (15.25)	Klinefelter syndrome	Table_S1	Direct comorbidity
M65	Synovitis and tenosynovitis	37	1529	0.433	0.00000000233	0.00000000543	43.29 (14.12)	Down syndrome	Table_S2	Inverse comorbidity
M65	Synovitis and tenosynovitis	13	643	0.371	0.0000089	0.0000225	49.75 (12.69)	Down syndrome	Table_S4	Male DS inverse comorbidity
M67	Other disorders of synovium and tendon	34	1387	0.440	0.0000000206	0.000000048	26.1 (17.7)	Down syndrome	Table_S2	Inverse comorbidity
M67	Other disorders of synovium and tendon	12	654	0.338	0.00000192	0.00000486	24.5 (15.25)	Down syndrome	Table_S4	Male DS inverse comorbidity
M70	Soft tissue disorders related to use. overuse and pressure	27	258	1.751	0.00826	0.0499	35.95 (13.71)	Klinefelter syndrome	Table_S1	Direct comorbidity
M70	Soft tissue disorders related to use. overuse and pressure	20	961	0.381	0.000000164	0.000000381	50.96 (13)	Down syndrome	Table_S2	Inverse comorbidity
M70	Soft tissue disorders related to use. overuse and pressure	6	359	0.346	0.000572	0.0015	49.45 (13.12)	Down syndrome	Table_S4	Female DS inverse comorbidity
M70	Soft tissue disorders related to use. overuse and pressure	14	540	0.473	0.000955	0.00241	50.96 (12.9)	Down syndrome	Table_S4	Male DS inverse comorbidity
M71	Other bursopathies	6	270	0.450	0.0154	0.0358	33.57 (17.43)	Down syndrome	Table_S2	Inverse comorbidity
M72	Fibroblastic disorders	16	105	2.764	0.000912	0.0042	53.13 (15.61)	Turner syndrome	Table_S1	Direct comorbidity
M72	Fibroblastic disorders	5	579	0.180	0.00000000608	0.0000000142	47.81 (26.22)	Down syndrome	Table_S2	Inverse comorbidity
M75	Shoulder lesions	17	3029	0.104	0	0	46.49 (12.37)	Down syndrome	Table_S2	Inverse comorbidity
M75	Shoulder lesions	12	651	0.344	0.000002	0.00000856	46.15 (11.65)	Turner syndrome	Table_S2	Inverse comorbidity
M75	Shoulder lesions	9	1340	0.133	1.26e-21	3.32e-21	50.04 (14.25)	Down syndrome	Table_S4	Female DS inverse comorbidity
M75	Shoulder lesions	8	1569	0.098	3.9e-29	9.84e-29	44.91 (9.82)	Down syndrome	Table_S4	Male DS inverse comorbidity
M75	Shoulder lesions	6	437	0.277	0.0000165	0.000042	42.26 (7.65)	Down syndrome	Table_S6	Non-mosaic DS inverse comorbidity
M76	Enthesopathies of lower limb. excluding foot	11	799	0.262	0.00000000278	0.00000000647	31.43 (16.11)	Down syndrome	Table_S2	Inverse comorbidity
M76	Enthesopathies of lower limb. excluding foot	7	360	0.394	0.00146	0.00383	31.43 (19.06)	Down syndrome	Table_S4	Female DS inverse comorbidity
M77	Other enthesopathies	14	870	0.300	0.00000000834	0.0000000194	29.65 (15.75)	Down syndrome	Table_S2	Inverse comorbidity
M77	Other enthesopathies	9	452	0.393	0.000484	0.00127	30.83 (13.14)	Down syndrome	Table_S4	Female DS inverse comorbidity
M77	Other enthesopathies	5	359	0.284	0.0000741	0.000187	19.95 (19.6)	Down syndrome	Table_S4	Male DS inverse comorbidity
M79	Other soft tissue disorders. not elsewhere classified	86	790	1.782	0.00000078	0.00000471	36.15 (15.3)	Klinefelter syndrome	Table_S1	Direct comorbidity
M80	Osteoporosis with pathological fracture	11	64	3.182	0.00244	0.0112	65.87 (10.38)	Turner syndrome	Table_S1	Direct comorbidity
M81	Osteoporosis without pathological fracture	40	63	10.379	2.42e-23	1.46e-22	54.21 (15.6)	Klinefelter syndrome	Table_S1	Direct comorbidity
M81	Osteoporosis without pathological fracture	68	261	4.540	6.07e-22	2.79e-21	52.65 (15.99)	Turner syndrome	Table_S1	Direct comorbidity
M81	Osteoporosis without pathological fracture	13	626	0.397	0.0000368	0.0000967	47.56 (14.86)	Down syndrome	Table_S4	Female DS inverse comorbidity
M81	Osteoporosis without pathological fracture	11	36	5.473	0.0000361	0.000257	34.7 (14.22)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
M82	Osteoporosis in diseases classified elsewhere	17	1	145.809	1.37e-20	8.27e-20	48.12 (11.18)	Klinefelter syndrome	Table_S1	Direct comorbidity
M82	Osteoporosis in diseases classified elsewhere	5	2	34.475	0.00000929	0.0000428	52.38 (12.7)	Turner syndrome	Table_S1	Direct comorbidity
M85	Other disorders of bone density and structure	25	45	9.157	0.0000000000000445	0.000000000000269	38.43 (13.43)	Klinefelter syndrome	Table_S1	Direct comorbidity
M85	Other disorders of bone density and structure	31	180	3.047	0.000000482	0.00000222	46.74 (15.52)	Turner syndrome	Table_S1	Direct comorbidity
M85	Other disorders of bone density and structure	9	557	0.313	0.00000576	0.0000134	39.64 (13.9)	Down syndrome	Table_S2	Inverse comorbidity
M91	Juvenile osteochondrosis of hip and pelvis	16	42	6.894	0.0000000485	0.000000161	9.97 (15.52)	Down syndrome	Table_S1	Direct comorbidity
M91	Juvenile osteochondrosis of hip and pelvis	12	42	5.155	0.0000311	0.000102	9.68 (17.14)	Down syndrome	Table_S3	Male DS direct comorbidity
M91	Juvenile osteochondrosis of hip and pelvis	7	21	6.342	0.00058	0.00161	11.25 (11.25)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
M95	Other acquired deformities of musculoskeletal system and connective tissue	11	84	2.512	0.012	0.0427	2.82 (13.14)	Down syndrome	Table_S3	Female DS direct comorbidity
N04	Nephrotic syndrome	8	44	3.488	0.00658	0.0218	44.21 (10.95)	Down syndrome	Table_S1	Direct comorbidity
N04	Nephrotic syndrome	7	24	5.457	0.00128	0.00419	44.72 (11.67)	Down syndrome	Table_S3	Male DS direct comorbidity
N10	Acute tubulo-interstitial nephritis	21	200	1.887	0.00987	0.0455	3.12 (16.77)	Turner syndrome	Table_S1	Direct comorbidity
N17	Acute renal failure	6	20	5.814	0.00224	0.00624	28.07 (19.54)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
N18	Chronic renal failure	48	437	1.951	0.0000506	0.000168	43.64 (14.37)	Down syndrome	Table_S1	Direct comorbidity
N18	Chronic renal failure	17	80	3.600	0.0000378	0.000228	54.84 (14.64)	Klinefelter syndrome	Table_S1	Direct comorbidity
N18	Chronic renal failure	16	140	2.145	0.00905	0.0321	44.88 (13.02)	Down syndrome	Table_S3	Female DS direct comorbidity
N18	Chronic renal failure	32	229	2.447	0.0000224	0.0000735	43.55 (14.96)	Down syndrome	Table_S3	Male DS direct comorbidity
N18	Chronic renal failure	10	63	2.998	0.00578	0.0161	45.27 (14.09)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
N19	Unspecified renal failure	24	194	2.236	0.000825	0.00273	43.48 (16.21)	Down syndrome	Table_S1	Direct comorbidity
N19	Unspecified renal failure	9	39	4.050	0.00154	0.00931	56.63 (19.84)	Klinefelter syndrome	Table_S1	Direct comorbidity
N19	Unspecified renal failure	17	128	2.379	0.00281	0.00922	43.68 (17.78)	Down syndrome	Table_S3	Male DS direct comorbidity
N20	Calculus of kidney and ureter	16	931	0.318	0.00000000735	0.0000000171	47.98 (17.56)	Down syndrome	Table_S2	Inverse comorbidity
N20	Calculus of kidney and ureter	5	345	0.309	0.000274	0.00072	49.52 (20.75)	Down syndrome	Table_S4	Female DS inverse comorbidity
N20	Calculus of kidney and ureter	11	571	0.358	0.0000147	0.0000372	47.69 (15.79)	Down syndrome	Table_S4	Male DS inverse comorbidity
N28	Other disorders of kidney and ureter. not elsewhere classified	11	84	2.462	0.0138	0.0458	51.43 (15)	Down syndrome	Table_S1	Direct comorbidity
N28	Other disorders of kidney and ureter. not elsewhere classified	8	46	3.265	0.00929	0.0305	53.74 (15.03)	Down syndrome	Table_S3	Male DS direct comorbidity
N30	Cystitis	190	1856	1.794	0.000000000000414	0.00000000000137	51.56 (19.75)	Down syndrome	Table_S1	Direct comorbidity
N30	Cystitis	5	20	5.129	0.00759	0.0212	4.56 (20.7)	Angelman syndrome	Table_S1	Direct comorbidity
N30	Cystitis	96	555	2.975	1.74e-18	5.7e-18	54.31 (19.88)	Down syndrome	Table_S3	Male DS direct comorbidity
N30	Cystitis	51	447	2.024	0.00000946	0.0000263	39.46 (22.58)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
N31	Neuromuscular dysfunction of bladder. not elsewhere classified	20	189	1.927	0.0101	0.0336	44.35 (22.06)	Down syndrome	Table_S1	Direct comorbidity
N31	Neuromuscular dysfunction of bladder. not elsewhere classified	17	96	3.164	0.00016	0.000524	42.99 (21.86)	Down syndrome	Table_S3	Male DS direct comorbidity
N31	Neuromuscular dysfunction of bladder. not elsewhere classified	6	33	3.591	0.0175	0.0487	9.23 (19.35)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
N35	Urethral stricture	40	138	5.144	0.0000000000000125	0.0000000000000415	50.11 (14.58)	Down syndrome	Table_S1	Direct comorbidity
N35	Urethral stricture	40	113	6.133	8.44e-17	2.77e-16	50.11 (14.58)	Down syndrome	Table_S3	Male DS direct comorbidity
N35	Urethral stricture	8	20	7.475	0.0000845	0.000235	31.06 (16.67)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
N39	Other disorders of urinary system	5	15	6.639	0.00282	0.0142	2.52 (27.03)	Patau syndrome	Table_S1	Direct comorbidity
N39	Other disorders of urinary system	137	1495	1.609	0.000000333	0.0000011	49.52 (21.49)	Down syndrome	Table_S1	Direct comorbidity
N39	Other disorders of urinary system	19	109	2.946	0.000142	0.000856	54.98 (23)	Klinefelter syndrome	Table_S1	Direct comorbidity
N39	Other disorders of urinary system	7	24	5.765	0.000658	0.00728	14.2 (12.05)	Triple X syndrome	Table_S1	Direct comorbidity
N39	Other disorders of urinary system	5	11	8.896	0.000838	0.00205	9.85 (20.82)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
N39	Other disorders of urinary system	5	17	5.984	0.00425	0.0118	0.94 (1.9)	Angelman syndrome	Table_S1	Direct comorbidity
N39	Other disorders of urinary system	66	410	2.780	0.0000000000068	0.0000000000223	49.42 (22.12)	Down syndrome	Table_S3	Male DS direct comorbidity
N39	Other disorders of urinary system	36	344	1.870	0.000815	0.00227	22.72 (23.29)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
N46	Male infertility	156	335	7.570	0	0	32.49 (6.88)	Klinefelter syndrome	Table_S1	Direct comorbidity
N46	Male infertility	6	23	4.828	0.00421	0.0396	32.61 (5.66)	XYY syndrome	Table_S1	Direct comorbidity
N47	Redundant prepuce. phimosis and paraphimosis	143	997	2.516	1.32e-20	4.38e-20	22.46 (19.9)	Down syndrome	Table_S1	Direct comorbidity
N47	Redundant prepuce. phimosis and paraphimosis	143	1002	2.448	4.96e-20	1.63e-19	22.46 (19.9)	Down syndrome	Table_S3	Male DS direct comorbidity
N47	Redundant prepuce. phimosis and paraphimosis	40	389	1.834	0.000591	0.00164	10.23 (13.97)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
N48	Other disorders of penis	20	148	2.283	0.00174	0.0105	37.39 (17.3)	Klinefelter syndrome	Table_S1	Direct comorbidity
N50	Other disorders of male genital organs	25	114	3.663	0.000000366	0.00000221	34.33 (9.96)	Klinefelter syndrome	Table_S1	Direct comorbidity
N62	Hypertrophy of breast	86	145	9.654	0	0	32.01 (11.96)	Klinefelter syndrome	Table_S1	Direct comorbidity
N62	Hypertrophy of breast	5	534	0.196	0.0000000483	0.000000113	28.62 (11.76)	Down syndrome	Table_S2	Inverse comorbidity
N63	Unspecified lump in breast	6	10	10.310	0.000181	0.00109	33.82 (11.13)	Klinefelter syndrome	Table_S1	Direct comorbidity
N83	Noninflammatory disorders of ovary. fallopian tube and broad ligament	9	742	0.235	0.00000000182	0.00000000424	41.54 (12.8)	Down syndrome	Table_S2	Inverse comorbidity
N83	Noninflammatory disorders of ovary. fallopian tube and broad ligament	9	696	0.255	0.000000021	0.0000000553	41.54 (12.8)	Down syndrome	Table_S4	Female DS inverse comorbidity
N84	Polyp of female genital tract	43	262	2.884	0.0000000106	0.000000049	42.38 (10.7)	Turner syndrome	Table_S1	Direct comorbidity
N84	Polyp of female genital tract	9	587	0.297	0.00000165	0.00000385	45.63 (5.38)	Down syndrome	Table_S2	Inverse comorbidity
N84	Polyp of female genital tract	9	557	0.319	0.00000695	0.0000183	45.63 (5.38)	Down syndrome	Table_S4	Female DS inverse comorbidity
N84	Polyp of female genital tract	11	53	3.750	0.000665	0.00474	36.67 (8.98)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
N91	Absent. scanty and rare menstruation	18	54	5.955	0.0000000409	0.000000188	21.78 (7.93)	Turner syndrome	Table_S1	Direct comorbidity
N93	Other abnormal uterine and vaginal bleeding	5	247	0.422	0.0114	0.0265	33.71 (11.32)	Down syndrome	Table_S2	Inverse comorbidity
N94	Pain and other conditions associated with female genital organs and menstrual cycle	15	558	0.499	0.00155	0.00361	17.08 (9.9)	Down syndrome	Table_S2	Inverse comorbidity
N96	Habitual aborter	8	47	3.232	0.00965	0.0445	33.51 (4.27)	Turner syndrome	Table_S1	Direct comorbidity
N97	Female infertility	124	616	3.492	3.15e-30	1.45e-29	28.7 (5.81)	Turner syndrome	Table_S1	Direct comorbidity
N97	Female infertility	39	160	4.193	0.000000000001	0.00000000000716	27.75 (4.64)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
N99	Postprocedural disorders of genitourinary system. not elsewhere classified	15	55	4.872	0.00000532	0.0000174	49.8 (12.4)	Down syndrome	Table_S3	Male DS direct comorbidity
Q02	Microcephaly	5	8	11.626	0.000416	0.00138	1.02 (15.5)	Down syndrome	Table_S1	Direct comorbidity
Q03	Congenital hydrocephalus	9	2	60.282	0.000000000112	0.00000000054	0.76 (12.36)	Edwards syndrome	Table_S1	Direct comorbidity
Q04	Other congenital malformations of brain	6	5	21.099	0.00000665	0.0000321	0 (13.66)	Edwards syndrome	Table_S1	Direct comorbidity
Q10	Congenital malformations of eyelid. lacrimal apparatus and orbit	31	47	11.626	2.17e-19	7.18e-19	6.55 (7.38)	Down syndrome	Table_S1	Direct comorbidity
Q10	Congenital malformations of eyelid. lacrimal apparatus and orbit	6	15	7.541	0.000704	0.00324	9.33 (6.51)	Turner syndrome	Table_S1	Direct comorbidity
Q10	Congenital malformations of eyelid. lacrimal apparatus and orbit	18	20	16.098	0.000000000000127	0.000000000000449	6.22 (5.05)	Down syndrome	Table_S3	Female DS direct comorbidity
Q10	Congenital malformations of eyelid. lacrimal apparatus and orbit	13	27	8.526	0.000000129	0.000000423	6.87 (9.5)	Down syndrome	Table_S3	Male DS direct comorbidity
Q10	Congenital malformations of eyelid. lacrimal apparatus and orbit	21	24	15.348	0.00000000000000227	0.0000000000000063	5.12 (8.5)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q12	Congenital lens malformations	65	24	46.039	0	0	23.81 (17.52)	Down syndrome	Table_S1	Direct comorbidity
Q12	Congenital lens malformations	28	7	64.496	7.72e-30	2.74e-29	24.54 (16.6)	Down syndrome	Table_S3	Female DS direct comorbidity
Q12	Congenital lens malformations	37	9	64.799	1.5e-38	4.92e-38	22.28 (18.17)	Down syndrome	Table_S3	Male DS direct comorbidity
Q12	Congenital lens malformations	22	11	33.429	1.21e-20	3.37e-20	16.49 (12.67)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q13	Congenital malformations of anterior segment of eye	12	29	7.557	0.00000114	0.00000378	4.68 (19.79)	Down syndrome	Table_S1	Direct comorbidity
Q13	Congenital malformations of anterior segment of eye	7	11	11.861	0.0000224	0.0000795	18.78 (22.58)	Down syndrome	Table_S3	Female DS direct comorbidity
Q13	Congenital malformations of anterior segment of eye	5	16	6.018	0.00499	0.0164	3.67 (2.84)	Down syndrome	Table_S3	Male DS direct comorbidity
Q13	Congenital malformations of anterior segment of eye	7	5	23.255	0.000000832	0.00000231	5.12 (22.58)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q14	Congenital malformations of posterior segment of eye	8	21	7.134	0.000114	0.000376	14.22 (13.79)	Down syndrome	Table_S1	Direct comorbidity
Q14	Congenital malformations of posterior segment of eye	5	11	8.896	0.00112	0.00399	13.69 (16.71)	Down syndrome	Table_S3	Female DS direct comorbidity
Q16	Congenital malformations of ear causing impairment of hearing	18	24	13.254	0.00000000000158	0.00000000000522	28.97 (17.54)	Down syndrome	Table_S1	Direct comorbidity
Q16	Congenital malformations of ear causing impairment of hearing	10	14	13.048	0.000000173	0.000000613	12.62 (18.89)	Down syndrome	Table_S3	Female DS direct comorbidity
Q16	Congenital malformations of ear causing impairment of hearing	8	15	9.592	0.0000201	0.0000659	33.02 (14.54)	Down syndrome	Table_S3	Male DS direct comorbidity
Q16	Congenital malformations of ear causing impairment of hearing	7	9	13.953	0.00000992	0.0000276	10.62 (15.87)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q17	Other congenital malformations of ear	6	302	0.403	0.00354	0.00825	2.52 (5.00)	Down syndrome	Table_S2	Inverse comorbidity
Q18	Other congenital malformations of face and neck	14	63	4.040	0.000065	0.000299	12.04 (14.3)	Turner syndrome	Table_S1	Direct comorbidity
Q18	Other congenital malformations of face and neck	9	20	8.036	0.0000163	0.000116	11.43 (8.31)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
Q20	Congenital malformations of cardiac chambers and connections	12	1	117.551	0.00000000000000326	0.0000000000000157	0 (2.58)	Edwards syndrome	Table_S1	Direct comorbidity
Q20	Congenital malformations of cardiac chambers and connections	54	23	39.964	0	0	1.29 (9.85)	Down syndrome	Table_S1	Direct comorbidity
Q20	Congenital malformations of cardiac chambers and connections	32	7	73.393	1.31e-34	4.65e-34	0.82 (9.72)	Down syndrome	Table_S3	Female DS direct comorbidity
Q20	Congenital malformations of cardiac chambers and connections	22	21	17.827	6.74e-17	2.21e-16	1.53 (9.95)	Down syndrome	Table_S3	Male DS direct comorbidity
Q20	Congenital malformations of cardiac chambers and connections	33	16	34.882	1.44e-30	3.99e-30	0.19 (4.92)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q21	Congenital malformations of cardiac septa	17	12	24.511	7.25e-16	0.00000000000000365	0 (3.74)	Patau syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	66	34	34.619	0	0	0 (4.8)	Edwards syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	931	259	62.512	0	0	1.78 (14.54)	Down syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	10	41	4.243	0.000593	0.00358	12.6 (17.35)	Klinefelter syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	8	13	11.581	0.00000367	0.0000406	0.1 (10.29)	Triple X syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	5	13	7.095	0.0023	0.0216	2.57 (7.77)	XYY syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	37	60	10.738	3.53e-22	1.63e-21	3.5 (13.7)	Turner syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	18	6	48.294	2.67e-20	6.54e-20	0.53 (2.51)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	10	7	22.902	0.00000000178	0.0000000057	0.39 (4.55)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
Q21	Congenital malformations of cardiac septa	466	134	61.548	0	0	2.55 (15.1)	Down syndrome	Table_S3	Female DS direct comorbidity
Q21	Congenital malformations of cardiac septa	465	137	57.582	0	0	1.2 (13.94)	Down syndrome	Table_S3	Male DS direct comorbidity
Q21	Congenital malformations of cardiac septa	441	107	71.379	0	0	1.24 (9.77)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q21	Congenital malformations of cardiac septa	16	2	95.704	1.04e-19	7.44e-19	6.41 (16.6)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
Q21	Congenital malformations of cardiac septa	11	23	8.438	0.00000113	0.00000806	2.38 (5.28)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
Q22	Congenital malformations of pulmonary and tricuspid valves	7	7	18.085	0.00000226	0.0000109	0.04 (0.78)	Edwards syndrome	Table_S1	Direct comorbidity
Q22	Congenital malformations of pulmonary and tricuspid valves	43	39	19.183	1.36e-32	4.49e-32	0.54 (13.1)	Down syndrome	Table_S1	Direct comorbidity
Q22	Congenital malformations of pulmonary and tricuspid valves	19	21	16.175	0.0000000000000247	0.0000000000000876	1.19 (17.08)	Down syndrome	Table_S3	Female DS direct comorbidity
Q22	Congenital malformations of pulmonary and tricuspid valves	24	25	16.396	9.74e-18	3.19e-17	0.53 (7.62)	Down syndrome	Table_S3	Male DS direct comorbidity
Q22	Congenital malformations of pulmonary and tricuspid valves	27	19	24.417	7.12e-23	1.98e-22	1.19 (13.73)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q23	Congenital malformations of aortic and mitral valves	5	5	18.085	0.0000723	0.000349	0.24 (19.16)	Edwards syndrome	Table_S1	Direct comorbidity
Q23	Congenital malformations of aortic and mitral valves	90	67	23.337	0	0	8.82 (13.24)	Down syndrome	Table_S1	Direct comorbidity
Q23	Congenital malformations of aortic and mitral valves	66	16	67.936	0	0	15.47 (15.94)	Turner syndrome	Table_S1	Direct comorbidity
Q23	Congenital malformations of aortic and mitral valves	50	29	30.247	6.72623e-44	2.38221e-43	8.27 (14.06)	Down syndrome	Table_S3	Female DS direct comorbidity
Q23	Congenital malformations of aortic and mitral valves	40	40	17.052	4.34e-29	1.42e-28	9.53 (12.1)	Down syndrome	Table_S3	Male DS direct comorbidity
Q23	Congenital malformations of aortic and mitral valves	56	31	31.067	0	0	7.95 (9.68)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q23	Congenital malformations of aortic and mitral valves	34	3	147.670	1.36999e-40	9.76e-40	14.83 (14.18)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
Q24	Other congenital malformations of heart	18	10	31.237	2.6e-17	1.26e-16	0 (0.47)	Edwards syndrome	Table_S1	Direct comorbidity
Q24	Other congenital malformations of heart	179	78	39.734	0	0	1.09 (14.2)	Down syndrome	Table_S1	Direct comorbidity
Q24	Other congenital malformations of heart	41	20	34.475	1.62e-37	7.48e-37	17.48 (16.03)	Turner syndrome	Table_S1	Direct comorbidity
Q24	Other congenital malformations of heart	73	43	29.923	0	0	1.94 (15.4)	Down syndrome	Table_S3	Female DS direct comorbidity
Q24	Other congenital malformations of heart	106	51	35.088	0	0	1 (13.14)	Down syndrome	Table_S3	Male DS direct comorbidity
Q24	Other congenital malformations of heart	93	40	39.987	0	0	0.31 (8.39)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q24	Other congenital malformations of heart	24	9	42.191	5.95e-24	4.24e-23	17.14 (12.15)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
Q25	Congenital malformations of great arteries	11	6	30.347	0.000000000035	0.000000000176	0 (0.59)	Patau syndrome	Table_S1	Direct comorbidity
Q25	Congenital malformations of great arteries	36	16	39.361	7.31e-36	3.52e-35	0 (0.72)	Edwards syndrome	Table_S1	Direct comorbidity
Q25	Congenital malformations of great arteries	240	126	33.093	0	0	0.12 (8.36)	Down syndrome	Table_S1	Direct comorbidity
Q25	Congenital malformations of great arteries	61	30	34.475	0	0	18.73 (19.13)	Turner syndrome	Table_S1	Direct comorbidity
Q25	Congenital malformations of great arteries	7	4	28.468	0.000000177	0.000000435	0.73 (1.13)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
Q25	Congenital malformations of great arteries	8	3	37.477	0.00000000782	0.0000000251	0.47 (0.72)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
Q25	Congenital malformations of great arteries	133	66	35.584	0	0	0.2 (9.49)	Down syndrome	Table_S3	Female DS direct comorbidity
Q25	Congenital malformations of great arteries	107	71	25.578	0	0	0.07 (6.57)	Down syndrome	Table_S3	Male DS direct comorbidity
Q25	Congenital malformations of great arteries	97	52	32.250	0	0	0.09 (5.18)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q25	Congenital malformations of great arteries	32	10	50.630	7.9e-33	5.62e-32	14.25 (15.57)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
Q26	Congenital malformations of great veins	10	17	10.657	0.000000777	0.00000257	0.89 (13.23)	Down syndrome	Table_S1	Direct comorbidity
Q26	Congenital malformations of great veins	6	5	20.757	0.00000819	0.000029	1.4 (16.44)	Down syndrome	Table_S3	Female DS direct comorbidity
Q26	Congenital malformations of great veins	6	4	24.417	0.00000432	0.000012	2.02 (1.42)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q31	Congenital malformations of larynx	22	25	15.427	5.24e-16	0.00000000000000173	0.43 (10.38)	Down syndrome	Table_S1	Direct comorbidity
Q31	Congenital malformations of larynx	18	13	23.142	0.00000000000000226	0.00000000000000742	0.47 (11.37)	Down syndrome	Table_S3	Male DS direct comorbidity
Q31	Congenital malformations of larynx	11	19	10.465	0.000000234	0.000000651	0.46 (2.74)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q32	Congenital malformations of trachea and bronchus	9	10	15.853	0.000000225	0.000000744	1.16 (4.58)	Down syndrome	Table_S1	Direct comorbidity
Q32	Congenital malformations of trachea and bronchus	6	5	19.894	0.0000103	0.0000339	1.47 (5.09)	Down syndrome	Table_S3	Male DS direct comorbidity
Q32	Congenital malformations of trachea and bronchus	6	7	15.261	0.0000306	0.0000852	1.47 (5.24)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q33	Congenital malformations of lung	5	13	7.474	0.00221	0.0073	1.36 (6.51)	Down syndrome	Table_S1	Direct comorbidity
Q35	Cleft palate	8	2	53.108	0.00000000155	0.00000000779	0 (8.34)	Patau syndrome	Table_S1	Direct comorbidity
Q35	Cleft palate	6	4	25.319	0.00000316	0.0000152	0.57 (9.15)	Edwards syndrome	Table_S1	Direct comorbidity
Q35	Cleft palate	12	44	5.038	0.0000378	0.000125	3.8 (13.86)	Down syndrome	Table_S1	Direct comorbidity
Q35	Cleft palate	7	1	71.170	0.00000000485	0.0000000119	1.15 (4.39)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
Q35	Cleft palate	9	15	10.658	0.00000292	0.00000959	5.09 (15.47)	Down syndrome	Table_S3	Male DS direct comorbidity
Q35	Cleft palate	6	16	7.182	0.000875	0.00243	4.18 (3.08)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q37	Cleft palate with cleft lip	21	3	97.365	9.64e-26	4.85e-25	0 (0.78)	Patau syndrome	Table_S1	Direct comorbidity
Q37	Cleft palate with cleft lip	10	4	39.786	0.0000000000917	0.000000000442	0 (0.08)	Edwards syndrome	Table_S1	Direct comorbidity
Q38	Other congenital malformations of tongue. mouth and pharynx	14	86	3.007	0.00101	0.00333	7.07 (14.06)	Down syndrome	Table_S1	Direct comorbidity
Q38	Other congenital malformations of tongue. mouth and pharynx	9	26	6.590	0.0000665	0.000236	9.49 (15.23)	Down syndrome	Table_S3	Female DS direct comorbidity
Q38	Other congenital malformations of tongue. mouth and pharynx	7	29	4.651	0.0028	0.00779	5.72 (5.53)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q39	Congenital malformations of oesophagus	11	2	72.339	0.000000000000384	0.00000000000185	0 (0)	Edwards syndrome	Table_S1	Direct comorbidity
Q39	Congenital malformations of oesophagus	10	6	27.404	0.00000000128	0.00000000424	5.96 (7.48)	Down syndrome	Table_S1	Direct comorbidity
Q39	Congenital malformations of oesophagus	6	4	23.873	0.00000493	0.0000162	0.97 (8.56)	Down syndrome	Table_S3	Male DS direct comorbidity
Q39	Congenital malformations of oesophagus	5	2	34.882	0.00000883	0.0000245	1.07 (5.66)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q40	Other congenital malformations of upper alimentary tract	13	73	3.299	0.000724	0.0024	5.19 (10.81)	Down syndrome	Table_S1	Direct comorbidity
Q40	Other congenital malformations of upper alimentary tract	6	25	4.790	0.00523	0.0185	7.41 (11.97)	Down syndrome	Table_S3	Female DS direct comorbidity
Q40	Other congenital malformations of upper alimentary tract	7	39	3.410	0.0126	0.0415	5.19 (9.2)	Down syndrome	Table_S3	Male DS direct comorbidity
Q40	Other congenital malformations of upper alimentary tract	8	24	6.279	0.000236	0.000655	7.3 (10.07)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q41	Congenital absence. atresia and stenosis of small intestine	41	7	91.554	5.60519e-45	1.68156e-44	0 (3.01)	Down syndrome	Table_S1	Direct comorbidity
Q41	Congenital absence. atresia and stenosis of small intestine	20	1	186.817	5.78e-25	2.05e-24	0 (3.8)	Down syndrome	Table_S3	Female DS direct comorbidity
Q41	Congenital absence. atresia and stenosis of small intestine	21	1	187.575	7.54e-26	2.47e-25	0 (1.9)	Down syndrome	Table_S3	Male DS direct comorbidity
Q41	Congenital absence. atresia and stenosis of small intestine	21	4	76.741	2.15e-23	5.97e-23	0 (3.34)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q42	Congenital absence. atresia and stenosis of large intestine	13	6	34.878	0.00000000000068	0.00000000000225	1.24 (8.76)	Down syndrome	Table_S1	Direct comorbidity
Q42	Congenital absence. atresia and stenosis of large intestine	7	3	35.584	0.000000123	0.000000437	1.24 (5.23)	Down syndrome	Table_S3	Female DS direct comorbidity
Q42	Congenital absence. atresia and stenosis of large intestine	6	4	23.873	0.00000493	0.0000162	1.41 (11.28)	Down syndrome	Table_S3	Male DS direct comorbidity
Q42	Congenital absence. atresia and stenosis of large intestine	5	8	11.627	0.000411	0.00114	0.07 (3.03)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q43	Other congenital malformations of intestine	42	38	19.227	6.75e-32	2.23e-31	1.55 (9.99)	Down syndrome	Table_S1	Direct comorbidity
Q43	Other congenital malformations of intestine	12	12	17.792	0.000000000727	0.00000000258	1.25 (14.84)	Down syndrome	Table_S3	Female DS direct comorbidity
Q43	Other congenital malformations of intestine	30	20	25.172	2.5e-25	8.21e-25	2.3 (7.16)	Down syndrome	Table_S3	Male DS direct comorbidity
Q43	Other congenital malformations of intestine	22	12	30.857	3.26e-20	9.06e-20	1.95 (3.89)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q45	Other congenital malformations of digestive system	10	6	27.404	0.00000000128	0.00000000424	0 (2.94)	Down syndrome	Table_S1	Direct comorbidity
Q45	Other congenital malformations of digestive system	6	1	62.272	0.000000149	0.00000053	0.04 (3.64)	Down syndrome	Table_S3	Female DS direct comorbidity
Q45	Other congenital malformations of digestive system	6	1	61.044	0.000000166	0.000000461	0 (0.04)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q53	Undescended testicle	5	18	5.590	0.00541	0.0272	0 (1.25)	Patau syndrome	Table_S1	Direct comorbidity
Q53	Undescended testicle	92	528	3.066	2.59e-18	8.56e-18	7.73 (11.79)	Down syndrome	Table_S1	Direct comorbidity
Q53	Undescended testicle	51	173	4.842	1.24e-17	7.48e-17	12.79 (15.12)	Klinefelter syndrome	Table_S1	Direct comorbidity
Q53	Undescended testicle	6	11	10.379	0.00011	0.00027	4.52 (4.07)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
Q53	Undescended testicle	6	28	4.333	0.00659	0.0184	11.89 (5.38)	Angelman syndrome	Table_S1	Direct comorbidity
Q53	Undescended testicle	92	516	3.067	1.65e-18	5.42e-18	7.73 (11.79)	Down syndrome	Table_S3	Male DS direct comorbidity
Q53	Undescended testicle	52	229	4.019	0.00000000000000466	0.000000000000013	7.89 (9.99)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q55	Other congenital malformations of male genital organs	14	53	4.844	0.0000119	0.0000393	6.73 (10.89)	Down syndrome	Table_S1	Direct comorbidity
Q55	Other congenital malformations of male genital organs	11	15	12.151	0.0000000806	0.000000487	24.17 (17.44)	Klinefelter syndrome	Table_S1	Direct comorbidity
Q55	Other congenital malformations of male genital organs	14	50	5.015	0.00000844	0.0000277	6.73 (10.89)	Down syndrome	Table_S3	Male DS direct comorbidity
Q62	Congenital obstructive defects of renal pelvis and congenital malformations of ureter	14	95	2.725	0.00232	0.00768	0.86 (12.87)	Down syndrome	Table_S1	Direct comorbidity
Q64	Other congenital malformations of urinary system	7	36	3.771	0.0079	0.0262	8.57 (18.2)	Down syndrome	Table_S1	Direct comorbidity
Q64	Other congenital malformations of urinary system	7	30	4.401	0.00374	0.0123	8.57 (18.2)	Down syndrome	Table_S3	Male DS direct comorbidity
Q65	Congenital deformities of hip	67	378	3.129	0.0000000000000478	0.000000000000158	12.43 (15.11)	Down syndrome	Table_S1	Direct comorbidity
Q65	Congenital deformities of hip	6	12	9.666	0.000177	0.000493	14.7 (10.39)	Angelman syndrome	Table_S1	Direct comorbidity
Q65	Congenital deformities of hip	40	232	3.131	0.00000000562	0.0000000199	11.52 (15.79)	Down syndrome	Table_S3	Female DS direct comorbidity
Q65	Congenital deformities of hip	27	107	4.421	0.0000000045	0.0000000148	13.49 (14.04)	Down syndrome	Table_S3	Male DS direct comorbidity
Q65	Congenital deformities of hip	31	149	3.721	0.00000000952	0.0000000265	10.61 (14.05)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q65	Congenital deformities of hip	7	31	4.219	0.00428	0.0305	0.24 (1.91)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
Q66	Congenital deformities of feet	9	12	13.617	0.000000309	0.00000155	0 (14.99)	Patau syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	12	49	4.702	0.0000487	0.000235	0.44 (8.46)	Edwards syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	220	483	7.963	0	0	12 (14.06)	Down syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	22	86	4.283	0.000000195	0.00000118	6.92 (18.79)	Klinefelter syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	8	19	7.449	0.0000617	0.000579	11.67 (6.36)	XYY syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	14	108	2.372	0.00683	0.0315	9.41 (18.16)	Turner syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	6	6	17.792	0.00001	0.0000246	4.56 (14.32)	Wolf Hirschhorn syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	5	12	7.688	0.0016	0.00511	3.07 (9.21)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	14	9	26.927	0.000000000000171	0.000000000000475	6.28 (6.47)	Angelman syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	10	33	5.582	0.000071	0.000685	4.56 (4.13)	Fragile X syndrome	Table_S1	Direct comorbidity
Q66	Congenital deformities of feet	110	208	9.449	0	0	12.25 (14.44)	Down syndrome	Table_S3	Female DS direct comorbidity
Q66	Congenital deformities of feet	110	278	6.784	0	0	11.43 (13.63)	Down syndrome	Table_S3	Male DS direct comorbidity
Q66	Congenital deformities of feet	10	28	6.476	0.0000222	0.00018	4.56 (4.13)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
Q66	Congenital deformities of feet	105	196	9.385	0	0	10.17 (11.64)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q66	Congenital deformities of feet	6	10	10.747	0.000105	0.000749	12.43 (5.46)	Down syndrome	Table_S6	Mosaic DS direct comorbidity
Q67	Congenital musculoskeletal deformities of head. face. spine and chest	5	15	6.471	0.00357	0.0344	0.3 (0.19)	Fragile X syndrome	Table_S1	Direct comorbidity
Q67	Congenital musculoskeletal deformities of head. face. spine and chest	8	40	3.906	0.00353	0.0125	0.77 (19.44)	Down syndrome	Table_S3	Female DS direct comorbidity
Q67	Congenital musculoskeletal deformities of head. face. spine and chest	5	14	6.829	0.00284	0.023	0.3 (0.19)	Fragile X syndrome	Table_S5	Male FXS direct comorbidity
Q69	Polydactyly	14	1	132.770	4.41e-18	2.22e-17	0 (2.25)	Patau syndrome	Table_S1	Direct comorbidity
Q70	Syndactyly	9	39	4.360	0.000979	0.00324	1.74 (17.85)	Down syndrome	Table_S1	Direct comorbidity
Q70	Syndactyly	6	21	5.549	0.00275	0.00766	1.95 (20.96)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q72	Reduction defects of lower limb	6	25	4.790	0.00523	0.0185	25.18 (18.78)	Down syndrome	Table_S3	Female DS direct comorbidity
Q72	Reduction defects of lower limb	5	16	6.156	0.00453	0.0126	13.25 (11.7)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q74	Other congenital malformations of limb(s)	20	92	3.938	0.0000024	0.00000794	9.58 (10.79)	Down syndrome	Table_S1	Direct comorbidity
Q74	Other congenital malformations of limb(s)	5	14	6.480	0.00381	0.023	9.03 (10.02)	Klinefelter syndrome	Table_S1	Direct comorbidity
Q74	Other congenital malformations of limb(s)	13	23	10.055	0.0000000257	0.000000119	15.52 (8.36)	Turner syndrome	Table_S1	Direct comorbidity
Q74	Other congenital malformations of limb(s)	11	54	3.882	0.000584	0.00207	11.38 (11.44)	Down syndrome	Table_S3	Female DS direct comorbidity
Q74	Other congenital malformations of limb(s)	9	51	3.279	0.00549	0.018	7.77 (9.77)	Down syndrome	Table_S3	Male DS direct comorbidity
Q74	Other congenital malformations of limb(s)	12	43	5.153	0.00003	0.0000834	8.82 (4.79)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q79	Congenital malformations of the musculoskeletal system. not elsewhere classified	8	1	79.662	0.000000000323	0.00000000162	0 (15.92)	Patau syndrome	Table_S1	Direct comorbidity
Q79	Congenital malformations of the musculoskeletal system. not elsewhere classified	11	5	36.169	0.0000000000187	0.0000000000904	0 (13.21)	Edwards syndrome	Table_S1	Direct comorbidity
Q79	Congenital malformations of the musculoskeletal system. not elsewhere classified	11	53	3.875	0.000606	0.00201	4.58 (18.16)	Down syndrome	Table_S1	Direct comorbidity
Q79	Congenital malformations of the musculoskeletal system. not elsewhere classified	6	30	4.018	0.011	0.0392	9.73 (14.37)	Down syndrome	Table_S3	Female DS direct comorbidity
Q79	Congenital malformations of the musculoskeletal system. not elsewhere classified	7	25	5.366	0.00136	0.00379	6.72 (14.41)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q82	Other congenital malformations of skin	13	75	3.175	0.000957	0.00441	11.18 (10.36)	Turner syndrome	Table_S1	Direct comorbidity
Q82	Other congenital malformations of skin	6	16	6.949	0.000968	0.00689	15.56 (6.62)	Turner syndrome	Table_S7	Non-mosaic TS direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	6	4	25.319	0.00000316	0.0000152	1.27 (7.2)	Edwards syndrome	Table_S1	Direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	15	85	3.244	0.000319	0.00106	6.54 (15.44)	Down syndrome	Table_S1	Direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	8	15	9.113	0.0000277	0.000168	15.42 (11.78)	Klinefelter syndrome	Table_S1	Direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	11	1	99.938	0.0000000000000664	0.000000000000213	2.64 (6.53)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	9	4	35.902	0.00000000101	0.0000000028	2.06 (3.17)	Angelman syndrome	Table_S1	Direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	5	11	8.627	0.0012	0.0116	0.75 (1.58)	Fragile X syndrome	Table_S1	Direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	7	30	4.592	0.00299	0.0106	11.31 (13.55)	Down syndrome	Table_S3	Female DS direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	8	32	4.651	0.00136	0.00446	5.12 (16.91)	Down syndrome	Table_S3	Male DS direct comorbidity
Q87	Other specified congenital malformation syndromes affecting multiple systems	7	29	4.651	0.0028	0.00779	5.93 (7.38)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q89	Other congenital malformations. not elsewhere classified	12	1	115.068	0.00000000000000202	0.0000000000000102	0 (1.09)	Patau syndrome	Table_S1	Direct comorbidity
Q89	Other congenital malformations. not elsewhere classified	26	7	61.036	1.9e-28	9.14e-28	0 (2.74)	Edwards syndrome	Table_S1	Direct comorbidity
Q89	Other congenital malformations. not elsewhere classified	35	61	10.126	3.01e-20	9.97e-20	0 (8.82)	Down syndrome	Table_S1	Direct comorbidity
Q89	Other congenital malformations. not elsewhere classified	20	23	15.568	0.00000000000000855	0.0000000000000303	0 (11.42)	Down syndrome	Table_S3	Female DS direct comorbidity
Q89	Other congenital malformations. not elsewhere classified	15	34	7.795	0.0000000349	0.000000114	0 (0.06)	Down syndrome	Table_S3	Male DS direct comorbidity
Q89	Other congenital malformations. not elsewhere classified	17	28	10.825	0.0000000000678	0.000000000188	0 (1.73)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q90	Down's syndrome	9	4	36.169	0.00000000133	0.00000000641	11.99 (24.48)	Edwards syndrome	Table_S1	Direct comorbidity
Q90	Down's syndrome	8	6	22.162	0.000000174	0.000000802	8.1 (6.22)	Turner syndrome	Table_S1	Direct comorbidity
Q91	Edwards' syndrome and Patau's syndrome	10	2	63.942	0.0000000000129	0.0000000000428	1.65 (24.45)	Down syndrome	Table_S1	Direct comorbidity
Q91	Edwards' syndrome and Patau's syndrome	6	1	62.272	0.000000149	0.00000053	5.68 (28.85)	Down syndrome	Table_S3	Female DS direct comorbidity
Q92	Other trisomies and partial trisomies of the autosomes. not elsewhere classified	22	2	133.698	3.28e-26	1.09e-25	6.07 (20.08)	Down syndrome	Table_S1	Direct comorbidity
Q92	Other trisomies and partial trisomies of the autosomes. not elsewhere classified	10	2	65.238	0.0000000000105	0.0000000000372	4.71 (24.72)	Down syndrome	Table_S3	Female DS direct comorbidity
Q92	Other trisomies and partial trisomies of the autosomes. not elsewhere classified	12	1	110.840	0.00000000000000985	0.0000000000000323	8.61 (15.05)	Down syndrome	Table_S3	Male DS direct comorbidity
Q92	Other trisomies and partial trisomies of the autosomes. not elsewhere classified	7	6	19.933	0.00000172	0.00000478	3.69 (5.38)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q93	Monosomies and deletions from the autosomes. not elsewhere classified	12	9	22.671	0.000000000117	0.000000000388	7.21 (19.33)	Down syndrome	Table_S1	Direct comorbidity
Q93	Monosomies and deletions from the autosomes. not elsewhere classified	5	4	21.351	0.0000444	0.000157	4.01 (12.35)	Down syndrome	Table_S3	Female DS direct comorbidity
Q93	Monosomies and deletions from the autosomes. not elsewhere classified	7	6	19.488	0.00000201	0.00000658	18.54 (20.94)	Down syndrome	Table_S3	Male DS direct comorbidity
Q95	Balanced rearrangements and structural markers. not elsewhere classified	6	3	30.165	0.00000192	0.00000886	11.92 (10.2)	Turner syndrome	Table_S1	Direct comorbidity
Q96	Turner's syndrome	8	10	14.268	0.00000198	0.00000656	12.69 (5.74)	Down syndrome	Table_S1	Direct comorbidity
Q96	Turner's syndrome	8	11	13.344	0.00000279	0.00000991	12.69 (5.74)	Down syndrome	Table_S3	Female DS direct comorbidity
Q96	Turner's syndrome	5	6	14.949	0.000162	0.00045	11.92 (4.74)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity
Q97	Other sex chromosome abnormalities. female phenotype. not elsewhere classified	16	1	146.518	9.15e-20	4.21e-19	12.37 (13.84)	Turner syndrome	Table_S1	Direct comorbidity
Q98	Other sex chromosome abnormalities. male phenotype. not elsewhere classified	5	16	6.155	0.00457	0.0151	11.12 (20.4)	Down syndrome	Table_S1	Direct comorbidity
Q98	Other sex chromosome abnormalities. male phenotype. not elsewhere classified	5	19	5.116	0.00908	0.0298	11.12 (20.4)	Down syndrome	Table_S3	Male DS direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	8	1	79.662	0.000000000323	0.00000000162	10.13 (16.34)	Patau syndrome	Table_S1	Direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	15	1	144.678	4.5e-19	2.17e-18	0.39 (6.05)	Edwards syndrome	Table_S1	Direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	36	27	23.044	2.58e-29	8.55e-29	16.79 (19.46)	Down syndrome	Table_S1	Direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	12	8	23.402	0.000000000109	0.000000000659	21.41 (11.96)	Klinefelter syndrome	Table_S1	Direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	11	1	99.325	0.0000000000000946	0.000000000000888	11.75 (8.8)	XYY syndrome	Table_S1	Direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	14	8	28.729	0.000000000000414	0.00000000000191	11.61 (10.64)	Turner syndrome	Table_S1	Direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	12	1	108.266	0.00000000000000329	0.0000000000000105	7.54 (11.09)	Cri-du-chat syndrome	Table_S1	Direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	12	13	16.521	0.00000000133	0.00000000472	5.97 (23.72)	Down syndrome	Table_S3	Female DS direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	24	14	28.420	2.69e-21	8.83e-21	18.12 (16.93)	Down syndrome	Table_S3	Male DS direct comorbidity
Q99	Other chromosome abnormalities. not elsewhere classified	14	22	11.375	0.00000000211	0.00000000587	19.57 (14.05)	Down syndrome	Table_S6	Non-mosaic DS direct comorbidity

Online material for the work: "Comorbidity landscape of the Danish patient population affected by chromosome abnormalities"

Isabella Friis Jørgensen, Francesco Russo, Anders Boeck Jensen, David Westergaard, Mette Lademann, Jessica Xin Hu, Søren Brunak, Kirstine Belling

You can filter the results for any column by typing in the Search area:

Online material for the work: "Comorbidity landscape of the Danish patient population affected by chromosome abnormalities"

Isabella Friis Jørgensen*, Francesco Russo*, Anders Boeck Jensen, David Westergaard, Mette Lademann, Jessica Xin Hu, Søren Brunak, Kirstine Belling

You can filter the results for any column by typing in the Search area:

Isabella Friis Jørgensen, Francesco Russo, Anders Boeck Jensen, David Westergaard, Mette Lademann, Jessica Xin Hu, Søren Brunak, Kirstine Belling