eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cerebellar hypoplasia | ||||
| Disease ID | 1863 |
|---|---|
| Disease | cerebellar hypoplasia |
| Definition | Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. |
| Synonym | cerebellum hypoplasia congenital cerebellar hypoplasia congenital cerebellar hypoplasia (disorder) congenital hypoplasia of cerebellum congenital small cerebellum hypoplasia cerebellar hypoplasia cerebellum hypoplasia of cerebellum hypoplasia of the cerebellum hypoplastic cerebellum small cerebellum underdeveloped cerebellum |
| OMIM | |
| UMLS | C0266470 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0266463 | lissencephaly | 14 C0025958 | microcephaly | 6 C0026846 | muscular atrophy | 2 C0026847 | spinal muscular atrophy | 2 C0010964 | dandy-walker malformation | 2 C0025362 | mental retardation | 2 C0004134 | ataxia | 2 C0013421 | dystonia | 1 C0020255 | hydrocephalus | 1 C0015923 | fetal alcohol syndrome | 1 C0014544 | epilepsy | 1 C0011847 | diabetes | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1863 |
|---|---|
| Disease | cerebellar hypoplasia |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001321 | Cerebellar hypoplasia | MP:0010422 | heart right ventricle hypoplasia | underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0001321 | Cerebellar hypoplasia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1863 |
|---|---|
| Disease | cerebellar hypoplasia |
| Case | (Waiting for update.) |