eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thyroid hypoplasia | ||||
| Disease ID | 296 |
|---|---|
| Disease | thyroid hypoplasia |
| Definition | Developmental hypoplasia of the thyroid gland. [HPO:probinson] |
| Synonym | hypoplasia of thyroid hypoplasia of thyroid (disorder) hypoplasia of thyroid (disorder) [ambiguous] hypoplasia, thyroid hypoplastic thyroid |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0151516 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 296 |
|---|---|
| Disease | thyroid hypoplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0001263 | Global developmental delay HP:0003270 | Abdominal distention HP:0010864 | Intellectual disability, severe HP:0000239 | Large fontanelles HP:0012378 | Fatigue HP:0004322 | Short stature HP:0002019 | Constipation HP:0000158 | Macroglossia HP:0000280 | Coarse facial features HP:0001510 | Growth delay HP:0001252 | Muscular hypotonia HP:0000952 | Jaundice HP:0000821 | Hypothyroidism HP:0005990 | Thyroid hypoplasia HP:0000271 | Abnormality of the face |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000821 | Underactive thyroid | 10 HP:0000851 | Congenital hypothyroidism | 7 HP:0100029 | Lingual thyroid | 1 HP:0002901 | Hypocalcemia | 1 |
| Disease ID | 296 |
|---|---|
| Disease | thyroid hypoplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893656 | 11502839 | 7849 | PAX8 | umls:C0151516 | BeFree | A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. | 0.122171535 | 2001 | PAX8;PAX8-AS1 | 2 | 113246826 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0005990 | Thyroid hypoplasia | MP:0012492 | pharyngeal arch artery hypoplasia | underdevelopment or reduced size of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels |
| 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:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| 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:0005990 | Thyroid hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001263 | Global developmental delay | 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:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004322 | Short stature | 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:0000239 | Large fontanelles | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012378 | Fatigue | 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:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 296 |
|---|---|
| Disease | thyroid hypoplasia |
| Case | (Waiting for update.) |