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 dominant inheritance (HP:0001423)

Term ID:

1423

Name:

X-linked dominant inheritance

Synonym:

X-linked dominant

Definition:

A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.

Comments:

Reference:

HP:0001423

Genes and Diseases:

Child Nodes:

Sister Nodes:

X-linked recessive inheritance (HP:0001419)

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:0001423	HP:0001423	X-linked dominant inheritance	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0001423	HP:0001423	X-linked dominant inheritance	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0001423	HP:0001423	X-linked dominant inheritance	0	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.	17
HP:0001423	HP:0001423	X-linked dominant inheritance	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0001423	HP:0001423	X-linked dominant inheritance	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0001423	HP:0001423	X-linked dominant inheritance	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0001423	HP:0001423	X-linked dominant inheritance	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	118
HP:0001423	HP:0001423	X-linked dominant inheritance	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0001423	HP:0001423	X-linked dominant inheritance	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0001423	HP:0001423	X-linked dominant inheritance	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0001423	HP:0001423	X-linked dominant inheritance	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0001423	HP:0001423	X-linked dominant inheritance	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0001423	HP:0001423	X-linked dominant inheritance	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	.	6
HP:0001423	HP:0001423	X-linked dominant inheritance	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0001423	HP:0001423	X-linked dominant inheritance	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0001423	HP:0001423	X-linked dominant inheritance	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A	.	6
HP:0001423	HP:0001423	X-linked dominant inheritance	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0001423	HP:0001423	X-linked dominant inheritance	0	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0001423	HP:0001423	X-linked dominant inheritance	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001423	HP:0001423	X-linked dominant inheritance	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.	493
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0001423	HP:0001423	X-linked dominant inheritance	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0001423	HP:0001423	X-linked dominant inheritance	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	101
HP:0001423	HP:0001423	X-linked dominant inheritance	0	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41		20
HP:0001423	HP:0001423	X-linked dominant inheritance	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001423	HP:0001423	X-linked dominant inheritance	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0001423	HP:0001423	X-linked dominant inheritance	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0001423	HP:0001423	X-linked dominant inheritance	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0001423	HP:0001423	X-linked dominant inheritance	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0001423	HP:0001423	X-linked dominant inheritance	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0001423	HP:0001423	X-linked dominant inheritance	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0001423	HP:0001423	X-linked dominant inheritance	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0001423	HP:0001423	X-linked dominant inheritance	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0001423	HP:0001423	X-linked dominant inheritance	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0001423	HP:0001423	X-linked dominant inheritance	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0001423	HP:0001423	X-linked dominant inheritance	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0001423	HP:0001423	X-linked dominant inheritance	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001423	HP:0001423	X-linked dominant inheritance	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001423	HP:0001423	X-linked dominant inheritance	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0001423	HP:0001423	X-linked dominant inheritance	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.	3
HP:0001423	HP:0001423	X-linked dominant inheritance	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0001423	HP:0001423	X-linked dominant inheritance	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0001423	HP:0001423	X-linked dominant inheritance	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0001423	HP:0001423	X-linked dominant inheritance	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0001423	HP:0001423	X-linked dominant inheritance	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0001423	HP:0001423	X-linked dominant inheritance	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0001423	HP:0001423	X-linked dominant inheritance	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0001423	HP:0001423	X-linked dominant inheritance	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0001423	HP:0001423	X-linked dominant inheritance	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001423	HP:0001423	X-linked dominant inheritance	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0001423	HP:0001423	X-linked dominant inheritance	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001423	HP:0001423	X-linked dominant inheritance	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0001423	HP:0001423	X-linked dominant inheritance	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0001423	HP:0001423	X-linked dominant inheritance	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0001423	HP:0001423	X-linked dominant inheritance	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001423	HP:0001423	X-linked dominant inheritance	0	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4	.	12
HP:0001423	HP:0001423	X-linked dominant inheritance	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0001423	HP:0001423	X-linked dominant inheritance	0	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	.	58
HP:0001423	HP:0001423	X-linked dominant inheritance	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0001423	HP:0001423	X-linked dominant inheritance	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0001423	HP:0001423	X-linked dominant inheritance	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0001423	HP:0001423	X-linked dominant inheritance	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51
HP:0001423	HP:0001423	X-linked dominant inheritance	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19

Genes (59) :ACSL4 ALAS2 AMELX AMER1 ATRX BCOR CASK CCNQ CDKL5 CLCN4 COL4A5 COX7B DDX3X DIAPH2 EBP EDA EFNB1 F8 FHL1 FLNA FMR1 G6PD GDI1 GJB1 GPR101 HCCS HDAC6 HDAC8 HNRNPH2 HSD17B10 IKBKG IQSEC2 KDM6A LAMP2 MECP2 MED12 MSL3 NAA10 NDUFB11 NEXMIF NHS NSDHL OFD1 PDHA1 PDK3 PHEX PORCN RNF113A RPS6KA3 SLC35A2 SMC1A SMPX SRY SYN1 TLR7 UBQLN2 USP9X WDR45 ZC4H2

Diseases (67) :OMIM:300387 OMIM:300752 OMIM:301200 OMIM:300373 OMIM:301040 OMIM:300166 OMIM:300908 OMIM:300749 OMIM:300707 OMIM:300672 OMIM:300114 OMIM:301050 OMIM:300887 OMIM:309801 OMIM:300958 OMIM:300511 OMIM:302960 OMIM:313500 OMIM:304110 OMIM:301071 OMIM:300717 OMIM:300695 OMIM:300049 OMIM:309350 OMIM:311300 OMIM:304120 OMIM:300244 OMIM:300624 OMIM:300623 OMIM:300849 OMIM:302800 OMIM:300942 OMIM:300863 OMIM:300882 OMIM:300986 OMIM:300438 OMIM:308300 OMIM:309530 OMIM:300867 OMIM:300257 OMIM:312750 OMIM:301068 OMIM:301032 OMIM:300855 OMIM:300952 OMIM:300912 OMIM:302350 OMIM:308050 OMIM:311200 OMIM:312170 OMIM:300905 OMIM:307800 OMIM:305600 OMIM:300953 OMIM:303600 OMIM:300844 OMIM:300896 OMIM:300590 OMIM:301044 OMIM:300066 OMIM:400045 OMIM:300491 OMIM:301080 OMIM:300857 OMIM:300968 OMIM:300894 OMIM:301041

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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