eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| partington syndrome | ||||
| Disease ID | 1916 |
|---|---|
| Disease | partington syndrome |
| Synonym | russell-silver syndrome, x-linked russell-silver-like syndrome with skin pigmentation |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0220775 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 170302 | ARX | 6.814 | DISEASES 1741 | DLG3 | 4.96 | DISEASES 51738 | GHRL | 1.263 | DISEASES 4204 | MECP2 | 1.831 | DISEASES 4821 | NKX2-2 | 3.071 | DISEASES 4983 | OPHN1 | 3.641 | DISEASES 5406 | PNLIP | 2.156 | DISEASES 5456 | POU3F4 | 3.119 | DISEASES 6197 | RPS6KA3 | 3.647 | DISEASES 3925 | STMN1 | 2.381 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ARX | Xp21.3 |
| Disease ID | 1916 |
|---|---|
| Disease | partington syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0000325 | Triangular face HP:0001511 | Prenatal onset growth retardation HP:0000957 | Cafe-au-lait macules |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1916 |
|---|---|
| Disease | partington syndrome |
| 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000957 | Cafe-au-lait spot | MP:0002939 | head spot | the appearance of a round area of white fur on the head |
| HP:0000325 | Triangular face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000325 | Triangular face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000957 | Cafe-au-lait spot | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| Disease ID | 1916 |
|---|---|
| Disease | partington syndrome |
| Case | (Waiting for update.) |