eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 46,xx gonadal dysgenesis | ||||
| Disease ID | 1789 |
|---|---|
| Disease | 46,xx gonadal dysgenesis |
| Synonym | 46,xx ovarian dysgenesis gonadal dysgenesis aaa gonadal dysgenesis, 46, xx gonadal dysgenesis, 46,xx gonadal dysgenesis, 46,xx [disease/finding] gonadal dysgenesis, xx type odg1 ovarian dysgenesis 1 ovarian dysgenesis, hypergonadotropic, autosomal recessive ovarian dysgenesis, hypergonadotropic, with normal karyotype ovarian failure, hypergonadotropic xx gonadal dysgenesis xxgd |
| Orphanet | |
| OMIM | |
| MeSH | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 1789 |
|---|---|
| Disease | 46,xx gonadal dysgenesis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0000786 | Primary amenorrhea HP:0004322 | Short stature HP:0000365 | Hearing impairment HP:0001166 | Arachnodactyly HP:0008684 | Aplasia/hypoplasia of the uterus HP:0002225 | Sparse pubic hair HP:0000837 | Elevated gonadotropins HP:0000869 | Secondary amenorrhea HP:0001251 | Ataxia HP:0010464 | Streak ovary HP:0002206 | Pulmonary fibrosis HP:0000837 | Increased circulating gonadotropin level HP:0000062 | Ambiguous genitalia HP:0008209 | Premature ovarian failure HP:0000252 | Microcephaly HP:0000938 | Osteopenia HP:0100805 | Precocious menopause HP:0000939 | Osteoporosis HP:0005625 | Osteoporosis of vertebrae HP:0000823 | Delayed puberty HP:0000133 | Mixed gonadal dysgenesis HP:0010311 | Aplasia/Hypoplasia of the breasts HP:0000133 | Gonadal dysgenesis HP:0009888 | Abnormality of secondary sexual hair HP:0001939 | Abnormality of metabolism/homeostasis HP:0002750 | Delayed skeletal maturation HP:0008214 | Decreased serum estradiol HP:0004349 | Reduced bone mineral density HP:0000144 | Decreased fertility |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1789 |
|---|---|
| Disease | 46,xx gonadal dysgenesis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909658 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48983125 | G | A |
| rs121909659 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48989022 | A | G |
| rs121909660 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48963104 | G | A |
| rs121909661 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48963566 | C | T |
| rs121909662 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48963266 | G | T |
| rs386833510 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48963778 | G | C |
| rs386833511 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48963097 | G | A |
| rs386833512 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48963061 | G | T |
| rs386833513 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48963020 | G | C |
| rs386833514 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48982918 | A | C |
| rs386833515 | NA | 2492 | FSHR | umls:C0949595 | CLINVAR | NA | 0.480814326 | NA | FSHR | 2 | 48968881 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | MP:0006271 | abnormal involution of the mammary gland | anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost |
| HP:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia | reduced size of the external masculine genital organs |
| HP:0000837 | Increased circulating gonadotropin level | MP:0011533 | increased urine major urinary protein level | increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine |
| HP:0002225 | Sparse pubic hair | MP:0009575 | abnormal pubic symphysis morphology | any structural anomaly of the firm fibrocartilaginous joint in the median plane between the two opposing surfaces of the pubic bones, which are united by an interpubic disc of fibrocartilage as well as the superior and arcuate pubic ligaments |
| HP:0010464 | Streak ovary | MP:0003578 | absent ovary | absence of the female reproductive gland containing the germ cells |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0000144 | Decreased fertility | MP:0008975 | delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0008209 | Premature ovarian failure | MP:0011125 | decreased primary ovarian follicle number | fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the folli |
| HP:0005625 | Osteoporosis of vertebrae | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000837 | Increased circulating gonadotropin level | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0000133 | Gonadal dysgenesis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | MP:0009937 | abnormal neuron differentiation | abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses |
| 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:0005625 | Osteoporosis of vertebrae | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000062 | Ambiguous genitalia | 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:0002225 | Sparse pubic hair | 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:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000786 | Primary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0010464 | Streak ovary | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0000869 | Secondary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0008209 | Premature ovarian failure | 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:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000252 | Microcephaly | 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:0000144 | Decreased fertility | 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 |
| Disease ID | 1789 |
|---|---|
| Disease | 46,xx gonadal dysgenesis |
| Case | (Waiting for update.) |