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	imperforate anus

Disease ID	850
Disease	imperforate anus
Definition	A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Synonym	anal atresia anal atresia (disorder) anal atresias anal imperforation anus atresia anus imperforate anus imperforated anus, imperforate anus, imperforate [disease/finding] aproctia atresia ani atresia of anus atresia, anal atresias, anal congenital atresia of anus congenital atresia of anus (disorder) congenital atresia of anus (disorder) [ambiguous] congenital imperforate anus congenital or infantile occlusion of anus imperforate anu imperforate anus (disorder) imperforate anus nos imperforate anus nos (disorder)
OMIM	OMIM:301800
DOID	DOID:10488
UMLS	C0003466
MeSH	D001006
SNOMED-CT	SNOMEDCT_US_2016_09_01:204712000;SNOMEDCT_US_2016_09_01:204731006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0014850 \| esophageal atresia \| 4 C0795690 \| omphalocele \| 2 C0027962 \| melanocytic nevi \| 1 C0041408 \| turner syndrome \| 1 C0020255 \| hydrocephalus \| 1 C0013080 \| trisomy 21 \| 1 C0158699 \| renal agenesis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5125 \| PCSK5 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:72) 23394 \| ADNP \| 1.987 \| DISEASES 174 \| AFP \| 2.011 \| DISEASES 262 \| AMD1 \| 1.143 \| DISEASES 10620 \| ARID3B \| 2.815 \| DISEASES 9070 \| ASH2L \| 2.506 \| DISEASES 80114 \| BICC1 \| 2.477 \| DISEASES 55636 \| CHD7 \| 2.711 \| DISEASES 1282 \| COL4A1 \| 1.444 \| DISEASES 1284 \| COL4A2 \| 1.868 \| DISEASES 594855 \| CPLX3 \| 3.173 \| DISEASES 285440 \| CYP4V2 \| 2.014 \| DISEASES 192668 \| CYS1 \| 1.903 \| DISEASES 51339 \| DACT1 \| 3.419 \| DISEASES 22943 \| DKK1 \| 2.299 \| DISEASES 285489 \| DOK7 \| 1.891 \| DISEASES 1855 \| DVL1 \| 1.638 \| DISEASES 1859 \| DYRK1A \| 1.236 \| DISEASES 1910 \| EDNRB \| 2.675 \| DISEASES 2048 \| EPHB2 \| 1.396 \| DISEASES 2049 \| EPHB3 \| 2.223 \| DISEASES 104355217 \| ERICD \| 1.314 \| DISEASES 2153 \| F5 \| 1.282 \| DISEASES 2187 \| FANCB \| 3.091 \| DISEASES 2235 \| FECH \| 2.247 \| DISEASES 2253 \| FGF8 \| 1.291 \| DISEASES 2263 \| FGFR2 \| 1.371 \| DISEASES 2274 \| FHL2 \| 1.239 \| DISEASES 2303 \| FOXC2 \| 1.46 \| DISEASES 2300 \| FOXL1 \| 2.406 \| DISEASES 2736 \| GLI2 \| 3.032 \| DISEASES 2737 \| GLI3 \| 4.032 \| DISEASES 10082 \| GPC6 \| 2.568 \| DISEASES 57657 \| HCN3 \| 3.043 \| DISEASES 3239 \| HOXD13 \| 2.507 \| DISEASES 3451 \| IFNA17 \| 1.277 \| DISEASES 3786 \| KCNQ3 \| 1.617 \| DISEASES 56479 \| KCNQ5 \| 2.253 \| DISEASES 7403 \| KDM6A \| 1.58 \| DISEASES 374654 \| KIF7 \| 2.538 \| DISEASES 222662 \| LHFPL5 \| 2.827 \| DISEASES 3980 \| LIG3 \| 1.167 \| DISEASES 378938 \| MALAT1 \| 1.07 \| DISEASES 9968 \| MED12 \| 2.422 \| DISEASES 8510 \| MMP23B \| 2.622 \| DISEASES 64779 \| MTHFSD \| 4.003 \| DISEASES 4734 \| NEDD4 \| 1.604 \| DISEASES 1482 \| NKX2-5 \| 1.038 \| DISEASES 2516 \| NR5A1 \| 1.129 \| DISEASES 4952 \| OCRL \| 1.624 \| DISEASES 5034 \| P4HB \| 1.121 \| DISEASES 5048 \| PAFAH1B1 \| 1.505 \| DISEASES 5053 \| PAH \| 1.205 \| DISEASES 5125 \| PCSK5 \| 2.199 \| DISEASES 256297 \| PTF1A \| 2.191 \| DISEASES 8241 \| RBM10 \| 2.325 \| DISEASES 9939 \| RBM8A \| 1.225 \| DISEASES 1827 \| RCAN1 \| 1.536 \| DISEASES 5979 \| RET \| 2.191 \| DISEASES 28984 \| RGCC \| 1.43 \| DISEASES 25942 \| SIN3A \| 2.212 \| DISEASES 83733 \| SLC25A18 \| 2.183 \| DISEASES 55315 \| SLC29A3 \| 3.556 \| DISEASES 6622 \| SNCA \| 1.298 \| DISEASES 6657 \| SOX2 \| 1.293 \| DISEASES 6732 \| SRPK1 \| 2.329 \| DISEASES 6736 \| SRY \| 1.884 \| DISEASES 64220 \| STRA6 \| 2.167 \| DISEASES 51337 \| THEM6 \| 2.134 \| DISEASES 11091 \| WDR5 \| 1.955 \| DISEASES 7481 \| WNT11 \| 1.911 \| DISEASES 8565 \| YARS \| 2.579 \| DISEASES 340152 \| ZC3H12D \| 1.789 \| DISEASES
Locus	(Waiting for update.)

Disease ID	850
Disease	imperforate anus
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:4) HP:0000365 \| Hearing impairment HP:0000047 \| Hypospadias HP:0002023 \| Anal atresia HP:0004397 \| Abnormal anus position
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:34) HP:0010480 \| Urethral fistula \| 7 HP:0025025 \| Vestibular fistula \| 4 HP:0002032 \| Esophageal atresia \| 4 HP:0004320 \| Vaginal fistula \| 3 HP:0000078 \| Genital abnormalities \| 3 HP:0000148 \| Vaginal atresia \| 2 HP:0010497 \| Sirenomelia \| 2 HP:0001539 \| Omphalocele \| 2 HP:0000143 \| Rectovaginal fistula \| 2 HP:0002607 \| Anal incontinence \| 2 HP:0000365 \| Hearing impairment \| 1 HP:0003270 \| Distended abdomen \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0004397 \| Abnormal anus position \| 1 HP:0004792 \| Rectoperineal fistula \| 1 HP:0001057 \| Aplasia cutis congenita \| 1 HP:0100582 \| Nasal polyps \| 1 HP:0030261 \| Absent penis \| 1 HP:0000995 \| Beauty mark \| 1 HP:0004871 \| Perineal fistula \| 1 HP:0000377 \| Malformation of auricle \| 1 HP:0011611 \| Interrupted aortic arch \| 1 HP:0008551 \| Hypoplasia of the external ear \| 1 HP:0100548 \| Exstrophy \| 1 HP:0000122 \| Unilateral kidney agenesis \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0100033 \| Tic disorder \| 1 HP:0001742 \| Obstruction of nose \| 1 HP:0000410 \| Hearing loss, mixed \| 1 HP:0010880 \| Increased nuchal translucency \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0004409 \| Decreased smell sensation \| 1 HP:0002575 \| Tracheoesophageal fistula \| 1 HP:0100771 \| Hypoperistalsis \| 1

Disease ID	850
Disease	imperforate anus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C1550639 \| fistula C1456333 \| megarectum C0206754 \| neuroendocrine tumor C0042580 \| vesicoureteral reflux C0034895 \| rectovaginal fistulas C0021843 \| intestinal obstruction C0021828 \| intestinal atresia C0019570 \| hirschsprung's disease C0015732 \| fecal incontinence
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0016169 \| fistula \| 9 C0021167 \| incontinence \| 1 C0015732 \| fecal incontinence \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002023	Anal atresia	MP:0006130	pulmonary valve atresia	congenital closure of the pulmonary valve

Mapped by homologous gene(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000365	Hearing impairment	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000047	Hypospadias	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002023	Anal atresia	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0004397	Ectopic anus	MP:0014152	absent exorbital lacrimal gland	absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland

Disease ID	850
Disease	imperforate anus
Case	(Waiting for update.)

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