eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cleft soft palate | ||||
| Disease ID | 1407 |
|---|---|
| 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 | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 554 | AVPR2 | 2.136 | DISEASES 1285 | COL4A3 | 2.643 | DISEASES 1312 | COMT | 1.803 | DISEASES 22943 | DKK1 | 2.125 | DISEASES 4771 | NF2 | 1.748 | DISEASES 64324 | NSD1 | 2.935 | DISEASES 23760 | PITPNB | 4.757 | DISEASES 6890 | TAP1 | 3.962 | DISEASES 6899 | TBX1 | 3.376 | DISEASES 50945 | TBX22 | 4.986 | DISEASES 7048 | TGFBR2 | 2.103 | DISEASES 113452 | TMEM54 | 4.789 | DISEASES 23331 | TTC28 | 4.865 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1407 |
|---|---|
| Disease | cleft soft palate |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0000185 | Cleft velum |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1407 |
|---|---|
| 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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| (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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1407 |
|---|---|
| Disease | cleft soft palate |
| Case | (Waiting for update.) |