PedAM
Pediatric Disease Annotations & Medicines
| ackerman syndrome | ||||
| Disease ID | 1670 |
|---|---|
| Disease | ackerman syndrome |
| Definition | Ackerman syndrome has characteristics of pyramidal molar roots and taurodontism associated with variable anomalies. It has been described in two generations of one family. Both parents and their six siblings had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. |
| Synonym | ackerman syndrome (disorder) glaucoma, juvenile, with unusual upper lip and dental roots juvenile glaucoma with unusual upper lip and dental roots molar roots, pyramidal, with juvenile glaucoma and unusual upper lip pyramidal molars, glaucoma, abnormal upper lip |
| Orphanet | |
| OMIM | |
| UMLS | C1860167 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1670 |
|---|---|
| Disease | ackerman syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1670 |
|---|---|
| Disease | ackerman 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) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0003694 | failure of blastocyst to hatch from the zona pellucida;HP:0011362 | Abnormal hair quantity |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000501 | Glaucoma | MP:0000010 | abnormal abdominal fat pad morphology;HP:0004209 | Clinodactyly of the 5th finger |
Chemical(Total Drugs:0) | |
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| (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.) | |