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:
Abnormality of the anus (HP:0004378)

Parent Node:
Ectopic anus (HP:0004397)

..Starting node
..Anteriorly placed anus (HP:0001545)

Term ID:

1545

Name:

Anteriorly placed anus

Synonym:

Anteriorly displaced anus; Anus anteposition

Definition:

Anterior malposition of the anus.

Comments:

Reference:

HP:0001545

Genes and Diseases:

Child Nodes:

Sister Nodes:

Posteriorly placed anus (HP:0012890)

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:0001545	HP:0001545	Anteriorly placed anus	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0001545	HP:0001545	Anteriorly placed anus	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0001545	HP:0001545	Anteriorly placed anus	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001545	HP:0001545	Anteriorly placed anus	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0001545	HP:0001545	Anteriorly placed anus	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0001545	HP:0001545	Anteriorly placed anus	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0001545	HP:0001545	Anteriorly placed anus	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	HP:0040284 - Very rare	2
HP:0001545	HP:0001545	Anteriorly placed anus	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001545	HP:0001545	Anteriorly placed anus	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0001545	HP:0001545	Anteriorly placed anus	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0001545	HP:0001545	Anteriorly placed anus	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0001545	HP:0001545	Anteriorly placed anus	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	2
HP:0001545	HP:0001545	Anteriorly placed anus	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0001545	HP:0001545	Anteriorly placed anus	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0001545	HP:0001545	Anteriorly placed anus	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001545	HP:0001545	Anteriorly placed anus	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001545	HP:0001545	Anteriorly placed anus	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0001545	HP:0001545	Anteriorly placed anus	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0001545	HP:0001545	Anteriorly placed anus	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0001545	HP:0001545	Anteriorly placed anus	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0001545	HP:0001545	Anteriorly placed anus	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.	92
HP:0001545	HP:0001545	Anteriorly placed anus	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0001545	HP:0001545	Anteriorly placed anus	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0001545	HP:0001545	Anteriorly placed anus	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0001545	HP:0001545	Anteriorly placed anus	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0001545	HP:0001545	Anteriorly placed anus	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0001545	HP:0001545	Anteriorly placed anus	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0001545	HP:0001545	Anteriorly placed anus	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0001545	HP:0001545	Anteriorly placed anus	0	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome	HP:0040281 - Very frequent	198
HP:0001545	HP:0001545	Anteriorly placed anus	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0001545	HP:0001545	Anteriorly placed anus	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040282 - Frequent	198
HP:0001545	HP:0001545	Anteriorly placed anus	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0001545	HP:0001545	Anteriorly placed anus	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0001545	HP:0001545	Anteriorly placed anus	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0001545	HP:0001545	Anteriorly placed anus	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0001545	HP:0001545	Anteriorly placed anus	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0001545	HP:0001545	Anteriorly placed anus	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001545	HP:0001545	Anteriorly placed anus	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0001545	HP:0001545	Anteriorly placed anus	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001545	HP:0001545	Anteriorly placed anus	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0001545	HP:0001545	Anteriorly placed anus	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0001545	HP:0001545	Anteriorly placed anus	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0001545	HP:0001545	Anteriorly placed anus	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0001545	HP:0001545	Anteriorly placed anus	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0001545	HP:0001545	Anteriorly placed anus	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0001545	HP:0001545	Anteriorly placed anus	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0001545	HP:0001545	Anteriorly placed anus	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0001545	HP:0001545	Anteriorly placed anus	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001545	HP:0001545	Anteriorly placed anus	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0001545	HP:0001545	Anteriorly placed anus	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0001545	HP:0001545	Anteriorly placed anus	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001545	HP:0001545	Anteriorly placed anus	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0001545	HP:0001545	Anteriorly placed anus	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0001545	HP:0001545	Anteriorly placed anus	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0001545	HP:0001545	Anteriorly placed anus	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent	445
HP:0001545	HP:0001545	Anteriorly placed anus	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0001545	HP:0001545	Anteriorly placed anus	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	HP:0040283 - Occasional	28
HP:0001545	HP:0001545	Anteriorly placed anus	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0001545	HP:0001545	Anteriorly placed anus	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	124
HP:0001545	HP:0001545	Anteriorly placed anus	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0001545	HP:0001545	Anteriorly placed anus	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0001545	HP:0001545	Anteriorly placed anus	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0001545	HP:0001545	Anteriorly placed anus	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0001545	HP:0001545	Anteriorly placed anus	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0001545	HP:0001545	Anteriorly placed anus	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0001545	HP:0001545	Anteriorly placed anus	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0001545	HP:0001545	Anteriorly placed anus	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0001545	HP:0001545	Anteriorly placed anus	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0001545	HP:0001545	Anteriorly placed anus	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0001545	HP:0001545	Anteriorly placed anus	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0001545	HP:0001545	Anteriorly placed anus	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent	25
HP:0001545	HP:0001545	Anteriorly placed anus	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001545	HP:0001545	Anteriorly placed anus	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34

Genes (61) :ACADVL ATN1 B3GLCT C2CD3 CDC45 CDH11 CDK8 CDON CHD4 COX7B DACT1 DCHS1 DDB1 DDX6 DISP1 DLL1 DVL3 ERCC4 ESCO2 FAT4 FGF8 FGFR2 FOXH1 FREM1 GAS1 GLI2 GLI3 HCCS KYNU MED12 NDUFB11 NFIX NODAL PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY POR PORCN PTCH1 PTDSS1 RECQL4 RFX6 RRAS2 SALL1 SETBP1 SHH SIX3 SLC25A24 SNRPB STIL SUZ12 TDGF1 TGIF1 TP63 TWIST2 UBR1 ZIC2

Diseases (49) :ORPHA:26793 OMIM:618494 OMIM:261540 OMIM:615948 OMIM:617063 ORPHA:1299 OMIM:211380 OMIM:618748 ORPHA:280195 OMIM:617159 OMIM:309801 ORPHA:857 ORPHA:314679 OMIM:601390 OMIM:619426 OMIM:618653 OMIM:616894 OMIM:615272 OMIM:216100 ORPHA:2319 OMIM:123790 ORPHA:1555 OMIM:608980 ORPHA:217266 OMIM:248450 ORPHA:2717 OMIM:146510 OMIM:617661 OMIM:305450 OMIM:602535 ORPHA:247262 OMIM:239300 OMIM:201750 ORPHA:95699 OMIM:305600 OMIM:151050 OMIM:218600 ORPHA:1225 OMIM:268400 OMIM:615710 OMIM:618624 ORPHA:798 OMIM:612289 OMIM:117650 OMIM:618786 OMIM:604292 OMIM:200110 ORPHA:2315 OMIM:243800

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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