PedAM

Pediatric Disease Annotations & Medicines


	anus, imperforate

Disease ID	1668
Disease	anus, imperforate
Synonym	anal atresia anal atresia (disorder) anal atresias anal imperforation anus atresia anus imperforate anus imperforated 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 imperforate anus (disorder) imperforate anus nos imperforate anus nos (disorder)
OMIM	OMIM:301800
DOID	DOID:10488
MeSH	D001006
SNOMED-CT	SNOMEDCT_US_2016_09_01:204712000;SNOMEDCT_US_2016_09_01:204731006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0014850 \| esophageal atresia \| 4 C0795690 \| omphalocele \| 3 C0027962 \| melanocytic nevi \| 1 C0158699 \| renal agenesis \| 1 C0342418 \| hypothalamic hamartoma \| 1 C0041408 \| turner syndrome \| 1 C0020255 \| hydrocephalus \| 1 C0013080 \| trisomy 21 \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PCSK5 \| 5125 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1668
Disease	anus, imperforate
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:35) HP:0010480 \| Urethral fistula \| 7 HP:0025025 \| Vestibular fistula \| 5 HP:0002032 \| Esophageal atresia \| 4 HP:0004871 \| Perineal fistula \| 3 HP:0000078 \| Genital abnormalities \| 3 HP:0004320 \| Vaginal fistula \| 3 HP:0001539 \| Omphalocele \| 3 HP:0000148 \| Vaginal atresia \| 2 HP:0002607 \| Anal incontinence \| 2 HP:0000143 \| Rectovaginal fistula \| 2 HP:0010497 \| Sirenomelia \| 2 HP:0001742 \| Obstruction of nose \| 1 HP:0003270 \| Distended abdomen \| 1 HP:0001057 \| Aplasia cutis congenita \| 1 HP:0004409 \| Decreased smell sensation \| 1 HP:0100548 \| Exstrophy \| 1 HP:0010880 \| Increased nuchal translucency \| 1 HP:0030261 \| Absent penis \| 1 HP:0008551 \| Hypoplasia of the external ear \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0000122 \| Unilateral kidney agenesis \| 1 HP:0000995 \| Beauty mark \| 1 HP:0004792 \| Rectoperineal fistula \| 1 HP:0100582 \| Nasal polyps \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0002444 \| Hypothalamic hamartoma \| 1 HP:0100771 \| Hypoperistalsis \| 1 HP:0000377 \| Malformation of auricle \| 1 HP:0100033 \| Tic disorder \| 1 HP:0000410 \| Hearing loss, mixed \| 1 HP:0011611 \| Interrupted aortic arch \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0004397 \| Abnormal anus position \| 1 HP:0002575 \| Tracheoesophageal fistula \| 1

Disease ID	1668
Disease	anus, imperforate
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0016169 \| fistula \| 10 C0021167 \| incontinence \| 1 C0015732 \| fecal incontinence \| 1

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

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0003466	phenytoin	D010672	57-41-0	anus, imperforate	MESH:D001006	marker/mechanism	1163515

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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