cleft soft palate |
Disease ID | 877 |
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Disease | cleft soft palate |
Definition | Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. [HPO:curators] |
Synonym | cleft muscular palate cleft of soft palate cleft of soft palate (disorder) cleft of soft palate only cleft soft palate nos cleft soft palate nos (disorder) cleft soft palate, central cleft velum soft cleft palate |
Orphanet | |
OMIM | |
DOID | |
ICD10 | |
UMLS | C0432098 |
SNOMED-CT | |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 27121 | DKK4 | DISEASES 3199 | HOXA2 | DISEASES 4488 | MSX2 | DISEASES 23314 | SATB2 | DISEASES 2052 | EPHX1 | DISEASES 9317 | PTER | DISEASES 4330 | MN1 | DISEASES 6899 | TBX1 | DISEASES 23760 | PITPNB | DISEASES 554 | AVPR2 | DISEASES 4771 | NF2 | DISEASES 6890 | TAP1 | DISEASES 7048 | TGFBR2 | DISEASES 1312 | COMT | DISEASES 50945 | TBX22 | DISEASES 113452 | TMEM54 | DISEASES 22943 | DKK1 | DISEASES 1285 | COL4A3 | DISEASES 23331 | TTC28 | DISEASES 64324 | NSD1 | DISEASES |
Locus | (Waiting for update.) |
Disease ID | 877 |
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Disease | cleft soft palate |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0000185 | Cleft velum |
Text Mined Phenotype | (Waiting for update.) |
Disease ID | 877 |
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Disease | cleft soft palate |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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