eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| marcus gunn phenomenon | ||||
| Disease ID | 1640 |
|---|---|
| Disease | marcus gunn phenomenon |
| Definition | Marcus Gunn phenomenon is a rare genetic disorder that is usually present at birth. It is characterized by the movement of one upper eyelid in a rapid rising motion each time the jaw moves. Other eye abnormalities and vision difficulties may also occur. The exact cause of this phenomenon is not known. - NORD Reference: NORD |
| Synonym | abnorm innervation synd abnormal eyelid innervation syndrome abnormal innervation syndrome of eyelid familial marcus gunn phenomenon jaw blinking jaw wink jaw winking jaw winking syndrome jaw-blinking jaw-blinking (disorder) jaw-winking jaw-winking syndrome jaw-winking syndrome (disorder) jaw-winking syndrome [ambiguous] marcus gunn phenonemon marcus gunn syndrome marcus-gunn jaw winking marcus-gunn syndrome maxillopalpebral synkinesis pterygoid-levator synkinesis winking jaw |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0266521 |
| 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:4) |
| Locus | (Waiting for update.) |
| Disease ID | 1640 |
|---|---|
| Disease | marcus gunn phenomenon |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1640 |
|---|---|
| Disease | marcus gunn phenomenon |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1640 |
|---|---|
| Disease | marcus gunn phenomenon |
| Case | (Waiting for update.) |