Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Gonosomal inheritance (HP:0010985)

Parent Node:
X-linked inheritance (HP:0001417)

..Starting node
..X-linked recessive inheritance (HP:0001419)

Term ID:

1419

Name:

X-linked recessive inheritance

Synonym:

X-linked recessive

Definition:

A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.

Comments:

Reference:

HP:0001419

Genes and Diseases:

Child Nodes:

Sister Nodes:

X-linked dominant inheritance (HP:0001423)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1	1280	1511	34	601691
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	9	204	48	300135
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	669	709	61	300371
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AFF2 CL E G H	2334	309548	FRAXE	309548	C0751157	OMIM	1	29	298	3776	300806
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	33	343	8768	300169
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	33	343	8768	300169
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIFM1 CL E G H	9131	300614	Deafness, X-linked 5	300614	C1845095	OMIM	1	33	343	8768	300169
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ALAS2 CL E G H	212	300751	Hereditary sideroblastic anemia	300751	C0221018	OMIM	1	103	227	397	301300
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	14	463	30881	300776
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AMMECR1 CL E G H	9949	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	300990	C4310810	OMIM	1	5	181	467	300195
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	191	346	6211	300836
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	14	204	560	300629
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AR CL E G H	367	300068	Androgen resistance syndrome	300068	C0039585	OMIM	1	627	400	644	313700
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	627	400	644	313700
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AR CL E G H	367	300633	Hypospadias 1, X-linked	300633	C2678098	OMIM	1	627	400	644	313700
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AR CL E G H	367	312300	Partial androgen insensitivity syndrome	312300	C0268301	OMIM	1	627	400	644	313700
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARHGEF9 CL E G H	23229	300607	Early infantile epileptic encephalopathy 8	300607	C1845102	OMIM	1	23	277	14561	300429
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARSE CL E G H	415	302950	Chondrodysplasia punctata 1, X-linked recessive	302950	C1844853	OMIM	1	46		719	300180
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	98	466	18060	300382
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARX CL E G H	170302	300419	Mental retardation, with or without seizures, ARX-related, X-linked	300419	C0796244	OMIM	1	98	466	18060	300382
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARX CL E G H	170302	309510	Partington X-linked mental retardation syndrome	309510	C0796250	OMIM	1	98	466	18060	300382
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	7	275	816	300014
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	5	233	868	300197
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	6	226	18305	300556
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP6AP2 CL E G H	10159	300911	Parkinsonism with spasticity, X-linked	300911	C3806722	OMIM	1	6	226	18305	300556
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	357	607	869	300011
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP7A CL E G H	538	300489	Distal spinal muscular atrophy, X-linked 3	300489	C1845359	OMIM	1	357	607	869	300011
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	357	607	869	300011
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	170	663	886	300032
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	286	356	897	300538
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AVPR2 CL E G H	554	300539	Nephrogenic syndrome of inappropriate antidiuresis	300539	C1845202	OMIM	1	286	356	897	300538
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	9	247	16695	300398
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BGN CL E G H	633	300106	Spondyloepimetaphyseal dysplasia X-linked	300106	C1848097	OMIM	1	9	226	1044	301870
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BRWD3 CL E G H	254065	300659	Mental retardation, X-linked 93	300659	C1970841	OMIM	1	18	343	17342	300553
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BTK CL E G H	695	300755	X-linked agammaglobulinemia	300755	C0221026	OMIM	1	910	421	1133	300300
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BTK CL E G H	695	307200	X-linked agammaglobulinemia with growth hormone deficiency	307200	C0472813	OMIM	1	910	421	1133	300300
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CACNA1F CL E G H	778	300476	Cone-rod dystrophy X-linked 3	300476	C1845407	OMIM	1	185	408	1393	300110
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CASK CL E G H	8573	300908	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	300908	C2720289	OMIM	1	119	446	1497	300172
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CCDC22 CL E G H	28952	300963	Ritscher-schinzel syndrome 2	300963	C4225419	OMIM	1	7	221	28909	300859
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CD40LG CL E G H	959	308230	Immunodeficiency with hyper IgM type 1	308230	C0398689	OMIM	1	241	278	11935	300386
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CFP CL E G H	5199	312060	Properdin deficiency, X-linked	312060	C1839454	OMIM	1	18	163	8864	300383
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CHRDL1 CL E G H	91851	309300	Megalocornea	309300	C0344530	OMIM	1	21	182	29861	300350
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	18	334	2022	302910
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN5 CL E G H	1184	300009	Dent disease 1	300009	C1848336	OMIM	1	274	359	2023	300008
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN5 CL E G H	1184	300554	Hypophosphatemic rickets, X-linked recessive	300554	C1845168	OMIM	1	274	359	2023	300008
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN5 CL E G H	1184	308990	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	308990	C1839874	OMIM	1	274	359	2023	300008
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN5 CL E G H	1184	310468	X-linked recessive nephrolithiasis with renal failure	310468	C0403720	OMIM	1	274	359	2023	300008
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLIC2 CL E G H	1193	300886	Mental retardation, X-linked, syndromic 32	300886	C3550913	OMIM	1	3	240	2063	300138
HP:0001419	HP:0001419	X-linked recessive inheritance	0	COL4A6 CL E G H	1288	300914	Deafness, X-linked 6	300914	C3806737	OMIM	1	5	246	2208	303631
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	40	247	2555	300304
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CYBB CL E G H	1536	300645	Atypical mycobacteriosis, familial, X-linked 2	300645	C1970859	OMIM	1	782	376	2578	300481
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CYBB CL E G H	1536	306400	Chronic granulomatous disease, X-linked	306400	C1844376	OMIM	1	782	376	2578	300481
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DDX3X CL E G H	1654	300958	Mental retardation, X-linked 102	300958	C4085582	OMIM	1	78	337	2745	300160
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	322	2890	300126
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DLG3 CL E G H	1741	300850	X-Linked mental retardation 90	300850	C3275443	OMIM	1	17	196	2902	300189
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	3970	3760	2928	300377
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	3970	3760	2928	300377
HP:0001419	HP:0001419	X-linked recessive inheritance	0	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	91	237	3133	300205
HP:0001419	HP:0001419	X-linked recessive inheritance	0	EDA CL E G H	1896	305100	Hypohidrotic X-linked ectodermal dysplasia	305100	C0162359	OMIM	1	330	347	3157	300451
HP:0001419	HP:0001419	X-linked recessive inheritance	0	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	5	178	3267	300161
HP:0001419	HP:0001419	X-linked recessive inheritance	0	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	113	435	3331	300384
HP:0001419	HP:0001419	X-linked recessive inheritance	0	F8 CL E G H	2157	306700	Hereditary factor VIII deficiency disease	306700	C0019069	OMIM	1	3231	737	3546	300841
HP:0001419	HP:0001419	X-linked recessive inheritance	0	F9 CL E G H	2158	306900	Hereditary factor IX deficiency disease	306900	C0008533	OMIM	1	1287	446	3551	300746
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	21	352	3583	300515
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FANCB CL E G H	2187	314390	VACTERL association with hydrocephaly, X-linked	314390	C1839115	OMIM	1	21	352	3583	300515
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	51	276	3663	300546
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FGF16 CL E G H	8823	309630	Metacarpal 4-5 fusion	309630	C1839728	OMIM	1	8	138	3672	300827
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	62	370	3702	300163
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FHL1 CL E G H	2273	300280	Uruguay faciocardiomusculoskeletal syndrome	300280	C1846010	OMIM	1	62	370	3702	300163
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FLNA CL E G H	2316	314400	Cardiac valvular dysplasia, X-linked	314400	C0262436	OMIM	1	271	1472	3754	300017
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FLNA CL E G H	2316	305620	Frontometaphyseal dysplasia	305620	C0265293	OMIM	1	271	1472	3754	300017
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FLNA CL E G H	2316	300048	Intestinal pseudoobstruction neuronal chronic idiopathic X-linked	300048	C2746068	OMIM	1	271	1472	3754	300017
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	108	256	6106	300292
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FRMD7 CL E G H	90167	310700	Infantile nystagmus, X-linked	310700	C1839580	OMIM	1	95	262	8079	300628
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	6	265	29007	300838
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FTSJ1 CL E G H	24140	309549	Mental retardation 9, X-linked	309549	C0796215	OMIM	1	10	206	13254	300499
HP:0001419	HP:0001419	X-linked recessive inheritance	0	G6PD CL E G H	2539	300908	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	300908	C2720289	OMIM	1	229	375	4057	305900
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GATA1 CL E G H	2623	300835	Anemia without thromobocytopenia, X-linked	300835	C3151785	OMIM	1	15	235	4170	305371
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GATA1 CL E G H	2623	300367	GATA-1-related thrombocytopenia with dyserythropoiesis	300367	C1845837	OMIM	1	15	235	4170	305371
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GATA1 CL E G H	2623	314050	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis	314050	C1839161	OMIM	1	15	235	4170	305371
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	1	499	668	4283	304040
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GJB2 CL E G H	2706	304400	Deafness, X-linked 2	304400	C1844678	OMIM	1	410	385	4284	121011
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GJB6 CL E G H	10804	304400	Deafness, X-linked 2	304400	C1844678	OMIM	1	34	157	4288	604418
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	37	186	4289	300474
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GLA CL E G H	2717	301500	Fabry disease	301500	C0002986	OMIM	1	966	728	4296	300644
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	98	526	4451	300037
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	5	196	4452	300168
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPR179 CL E G H	440435	614565	Congenital stationary night blindness, type 1E	614565	C3281215	OMIM	1	16	231	31371	614515
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GRIA3 CL E G H	2892	300699	Mental retardation, X-linked, syndromic, wu type	300699	C2678051	OMIM	1	24	243	4573	305915
HP:0001419	HP:0001419	X-linked recessive inheritance	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	18	486	4839	300019
HP:0001419	HP:0001419	X-linked recessive inheritance	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	428	272	5157	308000
HP:0001419	HP:0001419	X-linked recessive inheritance	0	HPRT1 CL E G H	3251	300323	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	300323	C0268117	OMIM	1	428	272	5157	308000
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	640	424	5389	300823
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	2	142	5461	300139
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IGF2 CL E G H	3481	616489	Growth restriction, severe, with distinctive facies	616489	C4225307	OMIM	1	11	67	5466	147470
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IGSF1 CL E G H	3547	300888	Hypothyroidism, central, and testicular enlargement	300888	C3550963	OMIM	1	42	213	5948	300137
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IKBKG CL E G H	8517	300636	Familial atypical mycobacteriosis, type 1, X-linked	300636	C1970879	OMIM	1	151	295	5961	300248
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IKBKG CL E G H	8517	300291	Hypohidrotic ectodermal dysplasia with immune deficiency	300291	C1846006	OMIM	1	151	295	5961	300248
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IKBKG CL E G H	8517	300584	Immunodeficiency without anhidrotic ectodermal dysplasia	300584	C1845117	OMIM	1	151	295	5961	300248
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IL1RAPL1 CL E G H	11141	300143	Mental retardation 21, X-linked	300143	C0796227	OMIM	1	42	273	5996	300206
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IL2RG CL E G H	3561	312863	Combined immunodeficiency, X-linked	312863	C1706416	OMIM	1	250	271	6010	308380
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IL2RG CL E G H	3561	300400	X-linked severe combined immunodeficiency	300400	C1279481	OMIM	1	250	271	6010	308380
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IQSEC2 CL E G H	23096	309530	Mental retardation, X-linked 1	309530	C2931498	OMIM	1	57	539	29059	300522
HP:0001419	HP:0001419	X-linked recessive inheritance	0	KDM5C CL E G H	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	300534	C1845243	OMIM	1	56	327	11114	314690
HP:0001419	HP:0001419	X-linked recessive inheritance	0	KIF4A CL E G H	24137	300923	Mental retardation, X-linked 100	300923	C3890167	OMIM	1	2	163	13339	300521
HP:0001419	HP:0001419	X-linked recessive inheritance	0	KLHL15 CL E G H	80311	300982	Mental retardation, X-linked 103	300982	C4310818	OMIM	1	4	172	29347	300980
HP:0001419	HP:0001419	X-linked recessive inheritance	0	L1CAM CL E G H	3897	304100	Corpus callosum, partial agenesis of, X-linked	304100	C1839909	OMIM	1	293	519	6470	308840
HP:0001419	HP:0001419	X-linked recessive inheritance	0	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	293	519	6470	308840
HP:0001419	HP:0001419	X-linked recessive inheritance	0	L1CAM CL E G H	3897	307000	X-linked hydrocephalus syndrome	307000	C0265216	OMIM	1	293	519	6470	308840
HP:0001419	HP:0001419	X-linked recessive inheritance	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	4	172	25726	300964
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MAGED2 CL E G H	10916	300971	Bartter syndrome, type 5, antenatal, transient	300971	C4310820	OMIM	1	7	151	16353	300470
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MAMLD1 CL E G H	10046	300758	Hypospadias 2, X-linked	300758	C2677879	OMIM	1	20	211	2568	300120
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MAOA CL E G H	4128	300615	Monoamine oxidase A deficiency	300615	C0796275	OMIM	1	18	208	6833	309850
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MBTPS2 CL E G H	51360	308205	IFAP syndrome with or without BRESHECK syndrome	308205	C1839988	OMIM	1	26	207	15455	300294
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	26	207	15455	300294
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MBTPS2 CL E G H	51360	300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	300918	C3806745	OMIM	1	26	207	15455	300294
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1050	1442	6990	300005
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1050	1442	6990	300005
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MECP2 CL E G H	4204	300673	Severe neonatal-onset encephalopathy with microcephaly	300673	C1968556	OMIM	1	1050	1442	6990	300005
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MED12 CL E G H	9968	305450	FG syndrome	305450	C0220769	OMIM	1	34	650	11957	300188
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	34	650	11957	300188
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MED12 CL E G H	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	309520	C0796022	OMIM	1	34	650	11957	300188
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MID1 CL E G H	4281	300000	Opitz-Frias syndrome	300000	C0175696	OMIM	1	98	289	7095	300552
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MID2 CL E G H	11043	300928	Mental retardation, X-linked 101	300928	C3890168	OMIM	1	2	184	7096	300204
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MSN CL E G H	4478	300988	Immunodeficiency 50	300988	C4310812	OMIM	1	2	134	7373	309845
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	327	499	7448	300415
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NAA10 CL E G H	8260	300855	N-terminal acetyltransferase deficiency	300855	C3275447	OMIM	1	10	296	18704	300013
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NDP CL E G H	4693	310600	Atrophia bulborum hereditaria	310600	C0266526	OMIM	1	167	207	7678	300658
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NDP CL E G H	4693	305390	Familial exudative vitreoretinopathy, X-linked	305390	C1844579	OMIM	1	167	207	7678	300658
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	41	468	29433	300524
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	4	168	7871	300084
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NR0B1 CL E G H	190	300200	Congenital adrenal hypoplasia, X-linked	300200	C0342482	OMIM	1	255	270	7960	300473
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	31	256	13398	300275
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NYX CL E G H	60506	310500	Congenital stationary night blindness, type 1A	310500	C3495587	OMIM	1	91	256	8082	300278
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OCRL CL E G H	4952	300555	Dent disease 2	300555	C1845167	OMIM	1	264	342	8108	300535
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	264	342	8108	300535
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	510	2567	300170
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OFD1 CL E G H	8481	300424	Retinitis Pigmentosa 23	300424	C1419610	OMIM	1	162	510	2567	300170
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OFD1 CL E G H	8481	300209	Simpson-Golabi-Behmel syndrome, type 2	300209	C1846175	OMIM	1	162	510	2567	300170
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPHN1 CL E G H	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	300486	C1845366	OMIM	1	43	245	8148	300127
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPN1LW CL E G H	5956	303700	Cone monochromatism	303700	C0339537	OMIM	1	63	250	9936	300822
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPN1LW CL E G H	5956	303900	Protan defect	303900	C0155015	OMIM	1	63	250	9936	300822
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPN1MW CL E G H	2652	303700	Cone monochromatism	303700	C0339537	OMIM	1	21	240	4206	300821
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPN1MW CL E G H	2652	303800	Deuteranopia	303800	C0155016	OMIM	1	21	240	4206	300821
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	1	527	641	8512	300461
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PAK3 CL E G H	5063	300558	Mental retardation 30, X-linked	300558	C0796237	OMIM	1	14	228	8592	300142
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	1	28	196	8896	311800
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	29	235	18145	300414
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PHF8 CL E G H	23133	300263	Siderius X-linked mental retardation syndrome	300263	C1846055	OMIM	1	16	208	20672	300560
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PHKA1 CL E G H	5255	300559	Glycogen storage disease IXd	300559	C1845151	OMIM	1	8	287	8925	311870
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	114	358	8926	300798
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	1	29	320	8957	311770
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PIH1D3 CL E G H	139212	300991	Ciliary dyskinesia, primary, 36, X-linked	300991	C4478372	OMIM	1	12		28570	300933
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	352	300	9086	300401
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PLP1 CL E G H	5354	312920	Spastic paraplegia 2	312920	C1839264	OMIM	1	352	300	9086	300401
HP:0001419	HP:0001419	X-linked recessive inheritance	0	POF1B CL E G H	79983	300604	Premature ovarian failure 2b	300604	C1845105	OMIM	1	1	215	13711	300603
HP:0001419	HP:0001419	X-linked recessive inheritance	0	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	2	182	9173	312040
HP:0001419	HP:0001419	X-linked recessive inheritance	0	POU3F4 CL E G H	5456	304400	Deafness, X-linked 2	304400	C1844678	OMIM	1	84	211	9217	300039
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PQBP1 CL E G H	10084	309500	Renpenning syndrome 1	309500	C0796135	OMIM	1	22	228	9330	300463
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	259	9462	311850
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PRPS1 CL E G H	5631	311070	Charcot-Marie-Tooth disease, X-linked recessive, type 5	311070	C1839566	OMIM	1	32	259	9462	311850
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PRPS1 CL E G H	5631	304500	Deafness, X-linked 1	304500	C1844677	OMIM	1	32	259	9462	311850
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PRPS1 CL E G H	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	300661	C1970827	OMIM	1	32	259	9462	311850
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RAB39B CL E G H	116442	300271	Mental retardation, X-linked 72	300271	C1846038	OMIM	1	17	280	16499	300774
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RAB39B CL E G H	116442	311510	Parkinsonism, early onset with mental retardation	311510	C0796195	OMIM	1	17	280	16499	300774
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RBM10 CL E G H	8241	311900	TARP syndrome	311900	C1839463	OMIM	1	10	197	9896	300080
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RBMX CL E G H	27316	300238	Mental retardation X-linked syndromic 11	300238	C1846145	OMIM	1	1	182	9910	300199
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	5	161	13429	300379
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RPGR CL E G H	6103	300834	Macular degeneration, X-linked atrophic	300834	C3151784	OMIM	1	245	662	10295	312610
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RPGR CL E G H	6103	300455	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	300455	C2749137	OMIM	1	245	662	10295	312610
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SH2D1A CL E G H	4068	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	131	240	10820	300490
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	139	542	11055	300036
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	100	484	11111	300040
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	15	206	11123	300105
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SSR4 CL E G H	6748	300934	Congenital disorder of glycosylation type 1y	300934	C4012395	OMIM	1	7	250	11326	300090
HP:0001419	HP:0001419	X-linked recessive inheritance	0	STS CL E G H	412	308100	X-linked ichthyosis with steryl-sulfatase deficiency	308100	C0079588	OMIM	1	72	406	11425	300747
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SYN1 CL E G H	6853	300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	300491	C1845343	OMIM	1	8	310	11494	313440
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TAF1 CL E G H	6872	314250	Dystonia 3, torsion, X-linked	314250	C1839130	OMIM	1	17	240	11535	313650
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	1	17	240	11535	313650
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1	158	400	11577	300394
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TEX11 CL E G H	56159	309120	Spermatogenic failure, X-linked, 2	309120	C1839841	OMIM	1	10	148	11733	300311
HP:0001419	HP:0001419	X-linked recessive inheritance	0	THOC2 CL E G H	57187	300957	Mental retardation, X-linked 12	300957	C0796218	OMIM	1	11	231	19073	300395
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	22	185	11817	300356
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TRAPPC2 CL E G H	6399	313400	Spondyloepiphyseal dysplasia tarda	313400	C3541456	OMIM	1	57	261	23068	300202
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TSPAN7 CL E G H	7102	300210	Mental retardation 58, X-linked	300210	C1846174	OMIM	1	12	213	11854	300096
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TSR2 CL E G H	90121	300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	300946	C4225422	OMIM	1	2	149	25455	300945
HP:0001419	HP:0001419	X-linked recessive inheritance	0	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	5	351	12469	314370
HP:0001419	HP:0001419	X-linked recessive inheritance	0	UBE2A CL E G H	7319	300860	Syndromic mental retardation, Nascimento type, X-linked	300860	C3275464	OMIM	1	26	193	12472	312180
HP:0001419	HP:0001419	X-linked recessive inheritance	0	UPF3B CL E G H	65109	300676	Mental retardation, syndromic 14, X-linked	300676	C1970822	OMIM	1	21	222	20439	300298
HP:0001419	HP:0001419	X-linked recessive inheritance	0	USP27X CL E G H	389856	300984	Mental retardation, X-linked 105	300984	C4310816	OMIM	1	2	169	13486	300975
HP:0001419	HP:0001419	X-linked recessive inheritance	0	USP9X CL E G H	8239	300919	Mental retardation, X-linked 99	300919	C3806746	OMIM	1	28	269	12632	300072
HP:0001419	HP:0001419	X-linked recessive inheritance	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	11	208	22082	300913
HP:0001419	HP:0001419	X-linked recessive inheritance	0	WAS CL E G H	7454	300299	Severe congenital neutropenia X-linked	300299	C1845987	OMIM	1	441	345	12731	300392
HP:0001419	HP:0001419	X-linked recessive inheritance	0	WAS CL E G H	7454	313900	Thrombocytopenia, X-linked	313900	C1839163	OMIM	1	441	345	12731	300392
HP:0001419	HP:0001419	X-linked recessive inheritance	0	WAS CL E G H	7454	301000	Wiskott-Aldrich syndrome	301000	C0043194	OMIM	1	441	345	12731	300392
HP:0001419	HP:0001419	X-linked recessive inheritance	0	XIAP CL E G H	331	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	99	361	592	300079
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	17	194	24931	300897
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ZIC3 CL E G H	7547	306955	Heterotaxy, visceral, X-linked	306955	C1844020	OMIM	1	42	252	12874	300265
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ZIC3 CL E G H	7547	314390	VACTERL association with hydrocephaly, X-linked	314390	C1839115	OMIM	1	42	252	12874	300265
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIPL1 CL E G H	23746	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	79	232	359	604392
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARL6 CL E G H	84100	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	21	79	13210	608845
HP:0001419	HP:0001419	X-linked recessive inheritance	0	C8orf37 CL E G H	157657	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	17	119	27232	614477
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLRN1 CL E G H	7401	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	39	175	12605	606397
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CNGA1 CL E G H	1259	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	33	167	2148	123825
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CRX CL E G H	1406	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	107	298	2383	602225
HP:0001419	HP:0001419	X-linked recessive inheritance	0	LRAT CL E G H	9227	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	24	158	6685	604863
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PDE6G CL E G H	5148	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	2	59	8789	180073
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RBP3 CL E G H	5949	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	18	377	9921	180290
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ROM1 CL E G H	6094	268000	Retinitis pigmentosa	268000	C0035334	OMIM	0	18	113	10254	180721

Genes (158) :ABCA4 ABCB7 ABCD1 AFF2 AIFM1 AIPL1 ALAS2 ALG13 AMMECR1 ANOS1 AP1S2 AR ARHGEF9 ARL6 ARSE ARX ATP2B3 ATP6AP1 ATP6AP2 ATP7A ATRX AVPR2 BCAP31 BGN BRWD3 BTK C8ORF37 CACNA1F CASK CCDC22 CD40LG CFP CHRDL1 CLCN4 CLCN5 CLIC2 CLRN1 CNGA1 COL4A6 CRX CUL4B CYBB DDX3X DKC1 DLG3 DMD EBP EDA EIF2S3 EMD F8 F9 FANCB FGD1 FGF16 FHL1 FLNA FOXP3 FRMD7 FRMPD4 FTSJ1 G6PD GATA1 GJB1 GJB2 GJB6 GK GLA GPC3 GPC4 GPR179 GRIA3 HCFC1 HPRT1 IDS IGBP1 IGF2 IGSF1 IKBKG IL1RAPL1 IL2RG IQSEC2 KDM5C KIF4A KLHL15 L1CAM LAS1L LRAT MAGED2 MAMLD1 MAOA MBTPS2 MECP2 MED12 MID1 MID2 MSN MTM1 NAA10 NDP NEXMIF NONO NR0B1 NSDHL NYX OCRL OFD1 OPHN1 OPN1LW OPN1MW OTC PAK3 PDE6G PGK1 PHF6 PHF8 PHKA1 PHKA2 PIGA PIH1D3 PLP1 POF1B POLA1 POU3F4 PQBP1 PRPS1 RAB39B RBM10 RBMX RBP3 RLIM ROM1 RPGR SH2D1A SLC6A8 SMC1A SMS SSR4 STS SYN1 TAF1 TAZ TEX11 THOC2 TIMM8A TRAPPC2 TSPAN7 TSR2 UBA1 UBE2A UPF3B USP27X USP9X VMA21 WAS XIAP ZC4H2 ZIC3

Diseases (193) :604116 301310 300100 309548 300816 310490 300614 268000 300751 300884 300990 308700 304340 300068 313200 300633 312300 300607 302950 308350 300419 309510 302500 300972 300423 300911 304150 300489 309400 309580 304800 300539 300475 300106 300659 300755 307200 300476 300908 300963 308230 312060 309300 300114 300009 300554 308990 310468 300886 300914 300354 300645 306400 300958 305000 300850 300376 310200 300960 305100 300148 310300 306700 306900 300514 314390 305400 309630 300696 300280 314400 305620 300048 304790 310700 300983 309549 300835 300367 314050 302800 304400 307030 301500 312870 614565 300699 309541 300322 300323 309900 300472 616489 300888 300636 300291 300584 300143 312863 300400 309530 300534 300923 300982 304100 303350 307000 309585 300971 300758 300615 308205 308800 300918 300260 300055 300673 305450 300895 309520 300000 300928 300988 310400 300855 310600 305390 300912 300967 300200 300831 310500 300555 309000 300804 300424 300209 300486 303700 303900 303800 311250 300558 300653 301900 300263 300559 306000 300868 300991 312080 312920 300604 301220 309500 301835 311070 304500 300661 300271 311510 311900 300238 300978 300834 300455 308240 300352 300590 309583 300934 308100 300491 314250 300966 302060 309120 300957 304700 313400 300210 300946 301830 300860 300676 300984 300919 310440 300299 313900 301000 314580 306955

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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