PedAM
Pediatric Disease Annotations & Medicines
| ramon syndrome | ||||
| Disease ID | 1871 |
|---|---|
| Disease | ramon syndrome |
| Synonym | cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth gingival fibromatosis combined with cherubism |
| Orphanet | |
| OMIM | |
| UMLS | C0796133 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1871 |
|---|---|
| Disease | ramon syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0005681 | Juvenile idiopathic arthritis HP:0001009 | Telangiectases HP:0000293 | Full cheeks HP:0000407 | Sensorineural hearing impairment HP:0000580 | Pigmentary retinopathy HP:0004322 | Stature below 3rd percentile HP:0002230 | Generalized hirsutism HP:0002808 | Gibbus deformity HP:0000189 | Narrow palate HP:0002797 | Osteolysis HP:0000593 | Abnormality of the anterior chamber HP:0100585 | Telangiectasia of the skin HP:0000189 | Decreased transverse dimension of palate HP:0001492 | Axenfeld anomaly HP:0001249 | Mental retardation HP:0000684 | Delayed eruption of teeth HP:0004325 | Low body weight HP:0000819 | Diabetes mellitus HP:0001250 | Seizures HP:0000169 | Gingival fibromatosis HP:0000365 | Hearing impairment HP:0000682 | Abnormality of dental enamel HP:0000962 | Hyperkeratosis HP:0000405 | Conductive hearing impairment HP:0000998 | Hypertrichosis HP:0008683 | Labia minora hypertrophy HP:0000169 | Gingival fibrous nodules HP:0007703 | Abnormality of retinal pigmentation HP:0002650 | Scoliosis HP:0000543 | Pale optic disc HP:0001249 | Intellectual disability HP:0001508 | Failure to thrive HP:0001014 | Angiokeratoma |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1871 |
|---|---|
| Disease | ramon syndrome |
| 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.) |
All Snps(Total Genotypes:0) | |
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| (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:0000682 | Abnormality of dental enamel | MP:0002649 | abnormal enamel rod pattern;HP:0000684 | Delayed eruption of teeth |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000682 | Abnormality of dental enamel | MP:0003257 | abnormal abdominal wall morphology;HP:0100543 | Cognitive impairment |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |