Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Anorectal anomaly (HP:0012732)

Parent Node:
Abnormality of the anus (HP:0004378)

..Starting node
..Anal atresia (HP:0002023)

Term ID:

2023

Name:

Anal atresia

Synonym:

Absent anus; Imperforate anus

Definition:

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

Comments:

Reference:

HP:0002023

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anal canal neoplasm (HP:0030437)

Anal fissure (HP:0012390)

Anal fistula (HP:0010447)

Anal margin neoplasm (HP:0030440)

Anal mucosal leukoplakia (HP:0005212)

Anal stenosis (HP:0002025)

Ectopic anus (HP:0004397)

Perianal abscess (HP:0009789)

Perianal dermatitis (HP:0011131)

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:0002023	HP:0002023	Anal atresia	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	HP:0040284 - Very rare	51
HP:0002023	HP:0002023	Anal atresia	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	HP:0040284 - Very rare	34
HP:0002023	HP:0002023	Anal atresia	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0002023	HP:0002023	Anal atresia	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0002023	HP:0002023	Anal atresia	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0002023	HP:0002023	Anal atresia	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0002023	HP:0002023	Anal atresia	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0002023	HP:0002023	Anal atresia	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0002023	HP:0002023	Anal atresia	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0002023	HP:0002023	Anal atresia	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0002023	HP:0002023	Anal atresia	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0002023	HP:0002023	Anal atresia	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0002023	HP:0002023	Anal atresia	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040281 - Very frequent	7
HP:0002023	HP:0002023	Anal atresia	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	38
HP:0002023	HP:0002023	Anal atresia	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002023	HP:0002023	Anal atresia	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0002023	HP:0002023	Anal atresia	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional	1003
HP:0002023	HP:0002023	Anal atresia	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	HP:0040283 - Occasional	1003
HP:0002023	HP:0002023	Anal atresia	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0002023	HP:0002023	Anal atresia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0002023	HP:0002023	Anal atresia	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0002023	HP:0002023	Anal atresia	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0002023	HP:0002023	Anal atresia	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0002023	HP:0002023	Anal atresia	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0002023	HP:0002023	Anal atresia	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0002023	HP:0002023	Anal atresia	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional
HP:0002023	HP:0002023	Anal atresia	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040283 - Occasional	2
HP:0002023	HP:0002023	Anal atresia	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0002023	HP:0002023	Anal atresia	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0002023	HP:0002023	Anal atresia	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0002023	HP:0002023	Anal atresia	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0002023	HP:0002023	Anal atresia	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0002023	HP:0002023	Anal atresia	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0002023	HP:0002023	Anal atresia	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002023	HP:0002023	Anal atresia	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002023	HP:0002023	Anal atresia	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0002023	HP:0002023	Anal atresia	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0002023	HP:0002023	Anal atresia	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional	5
HP:0002023	HP:0002023	Anal atresia	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0002023	HP:0002023	Anal atresia	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0002023	HP:0002023	Anal atresia	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional	3
HP:0002023	HP:0002023	Anal atresia	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0002023	HP:0002023	Anal atresia	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0002023	HP:0002023	Anal atresia	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0002023	HP:0002023	Anal atresia	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent	58
HP:0002023	HP:0002023	Anal atresia	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0002023	HP:0002023	Anal atresia	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0002023	HP:0002023	Anal atresia	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002023	HP:0002023	Anal atresia	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0002023	HP:0002023	Anal atresia	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002023	HP:0002023	Anal atresia	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0002023	HP:0002023	Anal atresia	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0002023	HP:0002023	Anal atresia	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0002023	HP:0002023	Anal atresia	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0002023	HP:0002023	Anal atresia	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040283 - Occasional	175
HP:0002023	HP:0002023	Anal atresia	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0002023	HP:0002023	Anal atresia	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0002023	HP:0002023	Anal atresia	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0002023	HP:0002023	Anal atresia	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002023	HP:0002023	Anal atresia	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0002023	HP:0002023	Anal atresia	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0002023	HP:0002023	Anal atresia	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0002023	HP:0002023	Anal atresia	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0002023	HP:0002023	Anal atresia	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0002023	HP:0002023	Anal atresia	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	7
HP:0002023	HP:0002023	Anal atresia	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	64
HP:0002023	HP:0002023	Anal atresia	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0002023	HP:0002023	Anal atresia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0002023	HP:0002023	Anal atresia	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0002023	HP:0002023	Anal atresia	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002023	HP:0002023	Anal atresia	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002023	HP:0002023	Anal atresia	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0002023	HP:0002023	Anal atresia	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0002023	HP:0002023	Anal atresia	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0002023	HP:0002023	Anal atresia	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040281 - Very frequent	25
HP:0002023	HP:0002023	Anal atresia	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0002023	HP:0002023	Anal atresia	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0002023	HP:0002023	Anal atresia	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0002023	HP:0002023	Anal atresia	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002023	HP:0002023	Anal atresia	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	4
HP:0002023	HP:0002023	Anal atresia	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0002023	HP:0002023	Anal atresia	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0002023	HP:0002023	Anal atresia	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0002023	HP:0002023	Anal atresia	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0002023	HP:0002023	Anal atresia	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0002023	HP:0002023	Anal atresia	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0002023	HP:0002023	Anal atresia	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0002023	HP:0002023	Anal atresia	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0002023	HP:0002023	Anal atresia	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0002023	HP:0002023	Anal atresia	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0002023	HP:0002023	Anal atresia	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0002023	HP:0002023	Anal atresia	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional	5
HP:0002023	HP:0002023	Anal atresia	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002023	HP:0002023	Anal atresia	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0002023	HP:0002023	Anal atresia	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0002023	HP:0002023	Anal atresia	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0002023	HP:0002023	Anal atresia	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0002023	HP:0002023	Anal atresia	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0002023	HP:0002023	Anal atresia	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002023	HP:0002023	Anal atresia	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040284 - Very rare	35
HP:0002023	HP:0002023	Anal atresia	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0002023	HP:0002023	Anal atresia	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0002023	HP:0002023	Anal atresia	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002023	HP:0002023	Anal atresia	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0002023	HP:0002023	Anal atresia	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	7
HP:0002023	HP:0002023	Anal atresia	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	11
HP:0002023	HP:0002023	Anal atresia	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0002023	HP:0002023	Anal atresia	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0002023	HP:0002023	Anal atresia	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0002023	HP:0002023	Anal atresia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002023	HP:0002023	Anal atresia	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0002023	HP:0002023	Anal atresia	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0002023	HP:0002023	Anal atresia	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0002023	HP:0002023	Anal atresia	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0002023	HP:0002023	Anal atresia	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0002023	HP:0002023	Anal atresia	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0002023	HP:0002023	Anal atresia	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0002023	HP:0002023	Anal atresia	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040283 - Occasional	28
HP:0002023	HP:0002023	Anal atresia	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0002023	HP:0002023	Anal atresia	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0002023	HP:0002023	Anal atresia	0	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R	.	9
HP:0002023	HP:0002023	Anal atresia	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0002023	HP:0002023	Anal atresia	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.	391
HP:0002023	HP:0002023	Anal atresia	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0002023	HP:0002023	Anal atresia	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0002023	HP:0002023	Anal atresia	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0002023	HP:0002023	Anal atresia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0002023	HP:0002023	Anal atresia	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002023	HP:0002023	Anal atresia	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0002023	HP:0002023	Anal atresia	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0002023	HP:0002023	Anal atresia	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0002023	HP:0002023	Anal atresia	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0002023	HP:0002023	Anal atresia	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0002023	HP:0002023	Anal atresia	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0002023	HP:0002023	Anal atresia	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002023	HP:0002023	Anal atresia	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0002023	HP:0002023	Anal atresia	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0002023	HP:0002023	Anal atresia	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	HP:0040283 - Occasional	6
HP:0002023	HP:0002023	Anal atresia	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0002023	HP:0002023	Anal atresia	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0002023	HP:0002023	Anal atresia	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0002023	HP:0002023	Anal atresia	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0002023	HP:0002023	Anal atresia	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0002023	HP:0002023	Anal atresia	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0002023	HP:0002023	Anal atresia	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	12
HP:0002023	HP:0002023	Anal atresia	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002023	HP:0002023	Anal atresia	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0002023	HP:0002023	Anal atresia	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0002023	HP:0002023	Anal atresia	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0002023	HP:0002023	Anal atresia	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent	7
HP:0002023	HP:0002023	Anal atresia	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0002023	HP:0002023	Anal atresia	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent	25
HP:0002023	HP:0002023	Anal atresia	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0002023	HP:0002023	Anal atresia	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002023	HP:0002023	Anal atresia	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0002023	HP:0002023	Anal atresia	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002023	HP:0002023	Anal atresia	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040282 - Frequent	27
HP:0002023	HP:0002023	Anal atresia	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0002023	HP:0002023	Anal atresia	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0002023	HP:0002023	Anal atresia	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0002023	HP:0002023	Anal atresia	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0002023	HP:0002023	Anal atresia	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0002023	HP:0002023	Anal atresia	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0002023	HP:0002023	Anal atresia	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13
HP:0002023	HP:0002023	Anal atresia	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0002023	HP:0002023	Anal atresia	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0002023	HP:0002023	Anal atresia	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39

Genes (134) :ABL1 AMER1 AR ARVCF B3GLCT BCOR BRCA1 BRCA2 BRIP1 CAPN15 CCDC22 CCNQ CD19 CD81 CDC45 CDH1 CEP120 CHD7 CHRM3 COMT COX7B CR2 CTNND1 DACT1 DCHS1 DPYS DYNC2H1 DYNC2I1 DYNC2I2 EHMT1 EMC1 EPCAM ERCC4 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR2 FKRP FKTN FOXF1 FRAS1 FREM2 FUZ GATA1 GDF3 GDF6 GLI3 GP1BB GPC3 GPC4 GRIP1 HCCS HIRA HOXD13 HSPA9 ICOS IFT80 INTU IRF2BP2 JMJD1C KDM6A KIF7 KMT2C KMT2D LARGE1 LONP1 MAD2L2 MAMLD1 MED12 MEOX1 MID1 MKKS MKS1 MNX1 MS4A1 MYCN NAA10 NBN NDUFB11 NFKB1 NFKB2 PALB2 PERCC1 PIGN PIGO PITX2 POMT1 POMT2 PPP2R3C PQBP1 PRKCD RAD51 RAD51C RECQL4 RFWD3 RIPK4 RREB1 RSPO2 SALL1 SALL4 SEC24C SIN3A SLX4 SPINT2 TBX1 TBX3 TCTN3 THOC6 TNFRSF13B TNFRSF13C TNFSF12 TNRC6B TWIST1 TWIST2 UBE2T UBR1 UFD1 UPB1 USP9X VANGL1 WASHC5 WDR35 WNT3 WNT7A XRCC2 ZIC3

Diseases (101) :OMIM:617602 OMIM:300373 ORPHA:95706 ORPHA:567 ORPHA:709 OMIM:309800 ORPHA:84 OMIM:605724 OMIM:619318 ORPHA:7 ORPHA:140952 ORPHA:1572 OMIM:617063 ORPHA:1997 OMIM:119580 OMIM:616300 OMIM:214800 OMIM:100100 ORPHA:2970 OMIM:309801 ORPHA:63260 ORPHA:857 OMIM:617466 OMIM:601390 OMIM:222748 OMIM:613091 ORPHA:93271 ORPHA:261652 OMIM:616875 ORPHA:480898 ORPHA:92050 OMIM:617425 OMIM:314390 ORPHA:3412 OMIM:614083 ORPHA:93259 ORPHA:93260 OMIM:236670 OMIM:265380 ORPHA:210122 ORPHA:2052 ORPHA:3027 OMIM:190685 ORPHA:2345 OMIM:146510 ORPHA:672 OMIM:312870 ORPHA:887 OMIM:616854 OMIM:617925 OMIM:147920 OMIM:200990 OMIM:600373 ORPHA:93932 OMIM:305450 ORPHA:2745 OMIM:300000 ORPHA:2473 OMIM:236700 OMIM:249000 OMIM:176450 ORPHA:391641 ORPHA:647 OMIM:251260 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:614749 OMIM:180500 OMIM:618419 OMIM:309500 ORPHA:93950 OMIM:617244 OMIM:613390 ORPHA:1225 OMIM:218600 OMIM:263650 ORPHA:3301 OMIM:107480 OMIM:607323 OMIM:147750 ORPHA:2307 ORPHA:94065 OMIM:270420 ORPHA:3138 OMIM:181450 ORPHA:2753 ORPHA:363444 OMIM:619243 OMIM:617746 OMIM:227260 ORPHA:1807 ORPHA:2315 OMIM:243800 OMIM:613161 OMIM:300968 ORPHA:480880 OMIM:220210 OMIM:273395 ORPHA:2879 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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