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:
obsolete 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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.	60
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.	60
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.	114
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.	72
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked	.	125
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.	45
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.	29
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ARX CL E G H	170302	18060	OMIM:309510	Partington syndrome	.	166
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked	.	1
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	.	36
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.	192
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.	192
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0001419	HP:0001419	X-linked recessive inheritance	0	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.	67
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.	8
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0001419	HP:0001419	X-linked recessive inheritance	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CFP CL E G H	5199	8864	OMIM:312060	Properdin deficiency, X-linked	.	7
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I		112
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.	60
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.	44
HP:0001419	HP:0001419	X-linked recessive inheritance	0	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6	.	18
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.	158
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CYBB CL E G H	1536	2578	OMIM:300645	Atypical mycobacteriosis, familial, X-linked 2	.	111
HP:0001419	HP:0001419	X-linked recessive inheritance	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.	1496
HP:0001419	HP:0001419	X-linked recessive inheritance	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0001419	HP:0001419	X-linked recessive inheritance	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0001419	HP:0001419	X-linked recessive inheritance	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0001419	HP:0001419	X-linked recessive inheritance	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0001419	HP:0001419	X-linked recessive inheritance	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0001419	HP:0001419	X-linked recessive inheritance	0	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0001419	HP:0001419	X-linked recessive inheritance	0	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion	.	3
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0001419	HP:0001419	X-linked recessive inheritance	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked	.	64
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.	124
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0001419	HP:0001419	X-linked recessive inheritance	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0001419	HP:0001419	X-linked recessive inheritance	0	HPRT1 CL E G H	3251	5157	OMIM:300323	Gout, hprt-related	.	76
HP:0001419	HP:0001419	X-linked recessive inheritance	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0001419	HP:0001419	X-linked recessive inheritance	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked		48
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1	.	119
HP:0001419	HP:0001419	X-linked recessive inheritance	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0001419	HP:0001419	X-linked recessive inheritance	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0001419	HP:0001419	X-linked recessive inheritance	0	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100		5
HP:0001419	HP:0001419	X-linked recessive inheritance	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0001419	HP:0001419	X-linked recessive inheritance	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0001419	HP:0001419	X-linked recessive inheritance	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.	134
HP:0001419	HP:0001419	X-linked recessive inheritance	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0001419	HP:0001419	X-linked recessive inheritance	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS		8
HP:0001419	HP:0001419	X-linked recessive inheritance	0	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa	.	62
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC		17
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked	.	5
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome		22
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.	22
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.	950
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0001419	HP:0001419	X-linked recessive inheritance	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	39
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.	7
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0001419	HP:0001419	X-linked recessive inheritance	0	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.	42
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23	.	201
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.	7
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series	.	7
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.	5
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series	.	5
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0001419	HP:0001419	X-linked recessive inheritance	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa	.	18
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.	21
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.	54
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0001419	HP:0001419	X-linked recessive inheritance	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B	.	31
HP:0001419	HP:0001419	X-linked recessive inheritance	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0001419	HP:0001419	X-linked recessive inheritance	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0001419	HP:0001419	X-linked recessive inheritance	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PRPS1 CL E G H	5631	9462	OMIM:304500	DEAFNESS, X-LINKED 1; DFNX1		49
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	.	49
HP:0001419	HP:0001419	X-linked recessive inheritance	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.	34
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72		34
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa	.	108
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa	.	38
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC		200
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001419	HP:0001419	X-linked recessive inheritance	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile	.	148
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0001419	HP:0001419	X-linked recessive inheritance	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001419	HP:0001419	X-linked recessive inheritance	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked	.	19
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	.	58
HP:0001419	HP:0001419	X-linked recessive inheritance	0	SYP CL E G H	6855	11506	OMIM:300802	MENTAL RETARDATION, X-LINKED 96; MRX96		28
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TAF1 CL E G H	6872	11535	OMIM:314250	Dystonia 3, torsion, X-linked	.	21
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2	.	5
HP:0001419	HP:0001419	X-linked recessive inheritance	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TLR7 CL E G H	51284	15631	OMIM:301051	IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TMLHE CL E G H	55217	18308	OMIM:300872	Autism, susceptibility to, X-linked 6	.	10
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58		26
HP:0001419	HP:0001419	X-linked recessive inheritance	0	TSR2 CL E G H	90121	25455	OMIM:300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	.	1
HP:0001419	HP:0001419	X-linked recessive inheritance	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0001419	HP:0001419	X-linked recessive inheritance	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0001419	HP:0001419	X-linked recessive inheritance	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0001419	HP:0001419	X-linked recessive inheritance	0	USP27X CL E G H	389856	13486	OMIM:300984	MENTAL RETARDATION, X-LINKED 105; MRX105		3
HP:0001419	HP:0001419	X-linked recessive inheritance	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0001419	HP:0001419	X-linked recessive inheritance	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0001419	HP:0001419	X-linked recessive inheritance	0	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked	.	65
HP:0001419	HP:0001419	X-linked recessive inheritance	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0001419	HP:0001419	X-linked recessive inheritance	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0001419	HP:0001419	X-linked recessive inheritance	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0001419	HP:0001419	X-linked recessive inheritance	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.	81
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001419	HP:0001419	X-linked recessive inheritance	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39

Genes (180) :ABCB7 ABCD1 AFF2 AIFM1 AIPL1 ALAS2 AMMECR1 ANOS1 AP1S2 AR ARHGEF9 ARL6 ARSL ARX ATP11C ATP2B3 ATP6AP1 ATP6AP2 ATP7A ATRX AVPR2 BCAP31 BCORL1 BGN BRWD3 BTK CACNA1F CCDC22 CD40LG CFAP418 CFAP47 CFP CHRDL1 CLCN5 CLDN2 CLIC2 CLRN1 CNGA1 COL4A6 CRX CUL4B CYBB DDX3X DKC1 DLG3 DMD DNAAF6 EBP EDA EIF2S3 ELF4 EMD F8 F9 FAM50A FANCB FGD1 FGF13 FGF16 FHL1 FLNA FOXP3 FRMPD4 FTSJ1 GATA1 GJB2 GJB6 GK GLA GPC3 GPC4 GPR143 GPR179 GPRASP2 GRIA3 HCFC1 HPRT1 HS6ST2 IDS IGBP1 IGF2 IGSF1 IKBKG IL1RAPL1 IL2RG IQSEC2 IRS4 KDM5C KIF4A KLHL15 L1CAM LAGE3 LAS1L LRAT MAGED2 MAGT1 MAMLD1 MAOA MBTPS2 MECP2 MED12 MID1 MID2 MSN MTM1 NAA10 NDP NDUFA1 NKAP NONO NR0B1 NSDHL NYX OCRL OFD1 OGT OPHN1 OPN1LW OPN1MW OTC OTUD5 PAK3 PDE6G PGK1 PHF6 PHF8 PHKA1 PHKA2 PIGA PLP1 POF1B POLA1 POU3F4 PQBP1 PRPS1 PTCHD1 RAB39B RBM10 RBMX RBP3 RLIM ROM1 RPGR RPL10 RS1 SASH3 SH2D1A SH3KBP1 SLC16A2 SLC6A8 SLC9A6 SLC9A7 SMC1A SMPX SMS SSR4 STAG2 STS SYN1 SYP TAF1 TAFAZZIN TEX11 THOC2 TIMM8A TLR7 TMLHE TRAPPC2 TSPAN7 TSR2 UBA1 UBE2A UPF3B USP27X USP9X VMA21 WAS XIAP ZC4H2 ZIC3

Diseases (224) :OMIM:301310 OMIM:300100 OMIM:309548 OMIM:300816 OMIM:310490 OMIM:300614 OMIM:300232 OMIM:268000 OMIM:300751 OMIM:300990 OMIM:308700 OMIM:304340 OMIM:300068 OMIM:300633 OMIM:312300 OMIM:313200 OMIM:300607 OMIM:302950 OMIM:308350 OMIM:300419 OMIM:309510 OMIM:301015 OMIM:302500 OMIM:300972 OMIM:301045 OMIM:300423 OMIM:300911 OMIM:309400 OMIM:304150 OMIM:300489 OMIM:309580 OMIM:304800 OMIM:300539 OMIM:300475 OMIM:301029 OMIM:300106 OMIM:300659 OMIM:300755 OMIM:307200 OMIM:300476 OMIM:300963 OMIM:308230 OMIM:301059 OMIM:312060 OMIM:309300 OMIM:300009 OMIM:300554 OMIM:310468 OMIM:308990 OMIM:301060 OMIM:300886 OMIM:300914 OMIM:300354 OMIM:300645 OMIM:306400 OMIM:300958 OMIM:305000 OMIM:300850 OMIM:310200 OMIM:300376 OMIM:300991 OMIM:300960 OMIM:305100 OMIM:300148 OMIM:301074 OMIM:310300 OMIM:306700 OMIM:306900 OMIM:300807 OMIM:300261 OMIM:300514 OMIM:314390 OMIM:305400 OMIM:301058 OMIM:309630 OMIM:300696 OMIM:300280 OMIM:305620 OMIM:300048 OMIM:304790 OMIM:300983 OMIM:309549 OMIM:301083 OMIM:300835 OMIM:314050 OMIM:300367 OMIM:304400 OMIM:307030 OMIM:301500 OMIM:312870 OMIM:301026 OMIM:300814 OMIM:614565 OMIM:301018 OMIM:300699 OMIM:309541 OMIM:300323 OMIM:300322 OMIM:301025 OMIM:309900 OMIM:300472 OMIM:616489 OMIM:300888 OMIM:300291 OMIM:300636 OMIM:300143 OMIM:312863 OMIM:300400 OMIM:309530 OMIM:301035 OMIM:300534 OMIM:300923 OMIM:300982 OMIM:304100 OMIM:307000 OMIM:303350 OMIM:301006 OMIM:309585 OMIM:300971 OMIM:301031 OMIM:300853 OMIM:300758 OMIM:300615 OMIM:308205 OMIM:308800 OMIM:301014 OMIM:300918 OMIM:300673 OMIM:300260 OMIM:300055 OMIM:309520 OMIM:300895 OMIM:305450 OMIM:300000 OMIM:300928 OMIM:300988 OMIM:310400 OMIM:300855 OMIM:305390 OMIM:310600 OMIM:301020 OMIM:301039 OMIM:300967 OMIM:300200 OMIM:300831 OMIM:310500 OMIM:300555 OMIM:309000 OMIM:300804 OMIM:300424 OMIM:300209 OMIM:300997 OMIM:300486 OMIM:303700 OMIM:303900 OMIM:303800 OMIM:311250 OMIM:301056 OMIM:300558 OMIM:300653 OMIM:301900 OMIM:300263 OMIM:300559 OMIM:306000 OMIM:300868 OMIM:301072 OMIM:312080 OMIM:312920 OMIM:300604 OMIM:301220 OMIM:301030 OMIM:309500 OMIM:301835 OMIM:311070 OMIM:304500 OMIM:300661 OMIM:300830 OMIM:300271 OMIM:311510 OMIM:311900 OMIM:300238 OMIM:300978 OMIM:300834 OMIM:300455 OMIM:300998 OMIM:312700 OMIM:301082 OMIM:308240 OMIM:300310 OMIM:300523 OMIM:300352 OMIM:300243 OMIM:301024 OMIM:300590 OMIM:301075 OMIM:309583 OMIM:300934 OMIM:301043 OMIM:308100 OMIM:300491 OMIM:300802 OMIM:314250 OMIM:300966 OMIM:302060 OMIM:309120 OMIM:300957 OMIM:304700 OMIM:301051 OMIM:300872 OMIM:313400 OMIM:300210 OMIM:300946 OMIM:301830 OMIM:300860 OMIM:300676 OMIM:300984 OMIM:300919 OMIM:310440 OMIM:300299 OMIM:313900 OMIM:301000 OMIM:300635 OMIM:314580 OMIM:306955

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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