eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| diencephalic syndrome | ||||
| Disease ID | 1817 |
|---|---|
| Disease | diencephalic syndrome |
| Definition | Emaciation in the setting of normal linear growth and intellectual development, which is usually associated with neoplasms involving the anterior hypothalamus in infancy or early childhood. |
| Synonym | diencephalic syndrome of infancy diencephalic syndrome of infancy (disorder) |
| Orphanet | |
| UMLS | C0271889 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) C0278652 | childhood craniopharyngioma | 1 C0020659 | hypothalamic neoplasms | 1 C0004114 | astrocytoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1817 |
|---|---|
| Disease | diencephalic syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0000639 | Nystagmus HP:0000708 | Behavioral abnormality HP:0004326 | Cachexia HP:0000975 | Hyperhidrosis HP:0000864 | Abnormality of the hypothalamus-pituitary axis HP:0004325 | Decreased body weight HP:0004375 | Neoplasm of the nervous system HP:0100022 | Abnormality of movement HP:0000400 | Macrotia HP:0001176 | Large hands HP:0000040 | Long penis HP:0000238 | Hydrocephalus HP:0000648 | Optic atrophy HP:0000232 | Everted lower lip vermilion |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1817 |
|---|---|
| Disease | diencephalic syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0004375 | Neoplasm of the nervous system | MP:0010287 | increased reproductive system tumor incidence | greater than the expected number of tumors originating in the reproductive system in a given population in a given time period |
| HP:0000232 | Everted lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0004325 | Decreased body weight | MP:0010239 | decreased skeletal muscle weight | less than average skeletal muscle weight |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0000040 | Long penis | MP:0005188 | small penis | reduced size of the organ of copulation and urination in the male |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0004375 | Neoplasm of the nervous system | 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 |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000232 | Everted lower lip vermilion | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000040 | Long penis | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0004325 | Decreased body weight | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001176 | Large hands | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| Disease ID | 1817 |
|---|---|
| Disease | diencephalic syndrome |
| Case | (Waiting for update.) |