PedAM

Pediatric Disease Annotations & Medicines


	microtia

Disease ID	1139
Disease	microtia
Definition	Underdevelopment of the external ear. [HPO:probinson, pmid:19152421, pmid:3270622]
Synonym	bilateral microtia congenital small ears hypoplasia of the external ear hypoplastic ears hypoplastic pinna hypoplastic pinnae microtia (disorder) microtia, bilateral microtias small ears small pinnae underdeveloped ears
Orphanet	ORPHANET:83463
ICD10	ICD10CM:Q17.2
UMLS	C0152423
SNOMED-CT	SNOMEDCT_US_2016_09_01:35045004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0018784 \| sensorineural deafness \| 1 C0022679 \| cystic kidney \| 1 C0003466 \| anal atresia \| 1 C0158699 \| renal agenesis \| 1 C0155550 \| neural deafness \| 1 C0008925 \| cleft palate \| 1 C0028754 \| obesity \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) HOXA2 \| 3199 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) HOXA2 \| 7p15.2

Disease ID	1139
Disease	microtia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0000413 \| External auditory meatal atresia \| 3 HP:0000365 \| Hearing impairment \| 2 HP:0000078 \| Genital abnormalities \| 2 HP:0000384 \| Preauricular skin tag \| 2 HP:0030021 \| Auricular tag \| 2 HP:0008443 \| Spinal deformities \| 1 HP:0002023 \| Anal atresia \| 1 HP:0008527 \| Hearing loss, congenital sensorineural \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0000347 \| Hypoplasia of mandible \| 1 HP:0200055 \| Small hand \| 1 HP:0000405 \| Conductive hearing loss \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0030025 \| Auricular pit \| 1 HP:0000494 \| Downward slanting palpebral fissures \| 1 HP:0008609 \| Morphological abnormality of the middle ear \| 1 HP:0011332 \| Hemifacial hypoplasia \| 1 HP:0005321 \| Mandibulofacial dysostosis \| 1 HP:0000122 \| Unilateral kidney agenesis \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0000274 \| Hypoplasia of face \| 1 HP:0001513 \| Obesity \| 1 HP:0010722 \| Asymmetry of the ears \| 1 HP:0000324 \| Asymmetry of face \| 1 HP:0000396 \| Overfolded ears \| 1

Disease ID	1139
Disease	microtia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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:0)
(Waiting for update.)

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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