Human Phenotype Ontology

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:0004397	HP:0004397	Ectopic anus	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0004397	HP:0004397	Ectopic anus	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0004397	HP:0004397	Ectopic anus	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0004397	HP:0004397	Ectopic anus	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0004397	HP:0004397	Ectopic anus	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0004397	HP:0004397	Ectopic anus	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0004397	HP:0004397	Ectopic anus	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0004397	HP:0004397	Ectopic anus	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0004397	HP:0004397	Ectopic anus	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0004397	HP:0004397	Ectopic anus	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly		200
HP:0004397	HP:0004397	Ectopic anus	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0004397	HP:0004397	Ectopic anus	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0004397	HP:0004397	Ectopic anus	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0004397	HP:0004397	Ectopic anus	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0004397	HP:0004397	Ectopic anus	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0004397	HP:0004397	Ectopic anus	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0004397	HP:0004397	Ectopic anus	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004397	HP:0004397	Ectopic anus	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly		22
HP:0004397	HP:0004397	Ectopic anus	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly		3
HP:0004397	HP:0004397	Ectopic anus	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004397	HP:0004397	Ectopic anus	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0004397	HP:0004397	Ectopic anus	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0004397	HP:0004397	Ectopic anus	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0004397	HP:0004397	Ectopic anus	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0004397	HP:0004397	Ectopic anus	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly		92
HP:0004397	HP:0004397	Ectopic anus	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0004397	HP:0004397	Ectopic anus	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0004397	HP:0004397	Ectopic anus	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly		17
HP:0004397	HP:0004397	Ectopic anus	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0004397	HP:0004397	Ectopic anus	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0004397	HP:0004397	Ectopic anus	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0004397	HP:0004397	Ectopic anus	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0004397	HP:0004397	Ectopic anus	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0004397	HP:0004397	Ectopic anus	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly		48
HP:0004397	HP:0004397	Ectopic anus	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0004397	HP:0004397	Ectopic anus	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0004397	HP:0004397	Ectopic anus	0	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome		198
HP:0004397	HP:0004397	Ectopic anus	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0004397	HP:0004397	Ectopic anus	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome		198
HP:0004397	HP:0004397	Ectopic anus	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0004397	HP:0004397	Ectopic anus	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly		2
HP:0004397	HP:0004397	Ectopic anus	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	7
HP:0004397	HP:0004397	Ectopic anus	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	64
HP:0004397	HP:0004397	Ectopic anus	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly		173
HP:0004397	HP:0004397	Ectopic anus	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0004397	HP:0004397	Ectopic anus	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0004397	HP:0004397	Ectopic anus	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0004397	HP:0004397	Ectopic anus	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0004397	HP:0004397	Ectopic anus	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0004397	HP:0004397	Ectopic anus	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0004397	HP:0004397	Ectopic anus	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	5
HP:0004397	HP:0004397	Ectopic anus	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0004397	HP:0004397	Ectopic anus	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0004397	HP:0004397	Ectopic anus	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0004397	HP:0004397	Ectopic anus	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0004397	HP:0004397	Ectopic anus	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly		45
HP:0004397	HP:0004397	Ectopic anus	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0004397	HP:0004397	Ectopic anus	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0004397	HP:0004397	Ectopic anus	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0004397	HP:0004397	Ectopic anus	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0004397	HP:0004397	Ectopic anus	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0004397	HP:0004397	Ectopic anus	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0004397	HP:0004397	Ectopic anus	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0004397	HP:0004397	Ectopic anus	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0004397	HP:0004397	Ectopic anus	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0004397	HP:0004397	Ectopic anus	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0004397	HP:0004397	Ectopic anus	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0004397	HP:0004397	Ectopic anus	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0004397	HP:0004397	Ectopic anus	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0004397	HP:0004397	Ectopic anus	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly		665
HP:0004397	HP:0004397	Ectopic anus	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0004397	HP:0004397	Ectopic anus	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0004397	HP:0004397	Ectopic anus	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome		445
HP:0004397	HP:0004397	Ectopic anus	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0004397	HP:0004397	Ectopic anus	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0004397	HP:0004397	Ectopic anus	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0004397	HP:0004397	Ectopic anus	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0004397	HP:0004397	Ectopic anus	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0004397	HP:0004397	Ectopic anus	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0004397	HP:0004397	Ectopic anus	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly		67
HP:0004397	HP:0004397	Ectopic anus	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0004397	HP:0004397	Ectopic anus	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0004397	HP:0004397	Ectopic anus	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0004397	HP:0004397	Ectopic anus	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly		99
HP:0004397	HP:0004397	Ectopic anus	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0004397	HP:0004397	Ectopic anus	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0004397	HP:0004397	Ectopic anus	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly		1
HP:0004397	HP:0004397	Ectopic anus	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0004397	HP:0004397	Ectopic anus	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0004397	HP:0004397	Ectopic anus	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0004397	HP:0004397	Ectopic anus	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0004397	HP:0004397	Ectopic anus	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0004397	HP:0004397	Ectopic anus	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0004397	HP:0004397	Ectopic anus	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0004397	HP:0004397	Ectopic anus	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly		34
HP:0004397	HP:0004397	Ectopic anus	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004397	HP:0001545	Anteriorly placed anus	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0004397	HP:0001545	Anteriorly placed anus	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0004397	HP:0001545	Anteriorly placed anus	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0004397	HP:0001545	Anteriorly placed anus	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0004397	HP:0001545	Anteriorly placed anus	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0004397	HP:0001545	Anteriorly placed anus	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0004397	HP:0001545	Anteriorly placed anus	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	HP:0040284 - Very rare	2
HP:0004397	HP:0001545	Anteriorly placed anus	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0004397	HP:0001545	Anteriorly placed anus	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0004397	HP:0001545	Anteriorly placed anus	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0004397	HP:0001545	Anteriorly placed anus	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0004397	HP:0001545	Anteriorly placed anus	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	2
HP:0004397	HP:0001545	Anteriorly placed anus	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0004397	HP:0001545	Anteriorly placed anus	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0004397	HP:0001545	Anteriorly placed anus	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0004397	HP:0001545	Anteriorly placed anus	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004397	HP:0001545	Anteriorly placed anus	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0004397	HP:0001545	Anteriorly placed anus	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0004397	HP:0001545	Anteriorly placed anus	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004397	HP:0001545	Anteriorly placed anus	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0004397	HP:0001545	Anteriorly placed anus	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.	92
HP:0004397	HP:0001545	Anteriorly placed anus	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0004397	HP:0001545	Anteriorly placed anus	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0004397	HP:0001545	Anteriorly placed anus	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0004397	HP:0001545	Anteriorly placed anus	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0004397	HP:0001545	Anteriorly placed anus	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0004397	HP:0001545	Anteriorly placed anus	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0004397	HP:0001545	Anteriorly placed anus	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0004397	HP:0001545	Anteriorly placed anus	1	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome	HP:0040281 - Very frequent	198
HP:0004397	HP:0001545	Anteriorly placed anus	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0004397	HP:0001545	Anteriorly placed anus	1	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040282 - Frequent	198
HP:0004397	HP:0001545	Anteriorly placed anus	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0004397	HP:0001545	Anteriorly placed anus	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0004397	HP:0001545	Anteriorly placed anus	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0004397	HP:0001545	Anteriorly placed anus	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0004397	HP:0001545	Anteriorly placed anus	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0004397	HP:0001545	Anteriorly placed anus	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0004397	HP:0001545	Anteriorly placed anus	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0004397	HP:0001545	Anteriorly placed anus	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0004397	HP:0001545	Anteriorly placed anus	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0004397	HP:0001545	Anteriorly placed anus	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0004397	HP:0001545	Anteriorly placed anus	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0004397	HP:0001545	Anteriorly placed anus	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0004397	HP:0001545	Anteriorly placed anus	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0004397	HP:0001545	Anteriorly placed anus	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0004397	HP:0001545	Anteriorly placed anus	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0004397	HP:0001545	Anteriorly placed anus	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0004397	HP:0001545	Anteriorly placed anus	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0004397	HP:0001545	Anteriorly placed anus	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0004397	HP:0001545	Anteriorly placed anus	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0004397	HP:0001545	Anteriorly placed anus	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0004397	HP:0001545	Anteriorly placed anus	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0004397	HP:0001545	Anteriorly placed anus	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0004397	HP:0001545	Anteriorly placed anus	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0004397	HP:0001545	Anteriorly placed anus	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent	445
HP:0004397	HP:0001545	Anteriorly placed anus	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0004397	HP:0001545	Anteriorly placed anus	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	HP:0040283 - Occasional	28
HP:0004397	HP:0001545	Anteriorly placed anus	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0004397	HP:0001545	Anteriorly placed anus	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	124
HP:0004397	HP:0001545	Anteriorly placed anus	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0004397	HP:0001545	Anteriorly placed anus	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0004397	HP:0001545	Anteriorly placed anus	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0004397	HP:0001545	Anteriorly placed anus	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0004397	HP:0001545	Anteriorly placed anus	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0004397	HP:0001545	Anteriorly placed anus	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0004397	HP:0001545	Anteriorly placed anus	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0004397	HP:0001545	Anteriorly placed anus	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0004397	HP:0001545	Anteriorly placed anus	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0004397	HP:0001545	Anteriorly placed anus	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0004397	HP:0001545	Anteriorly placed anus	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0004397	HP:0001545	Anteriorly placed anus	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0004397	HP:0001545	Anteriorly placed anus	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent	25
HP:0004397	HP:0001545	Anteriorly placed anus	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34
HP:0004397	HP:0012890	Posteriorly placed anus	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39