eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| image syndrome | ||||
| Disease ID | 964 |
|---|---|
| Disease | image syndrome |
| Synonym | intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder) intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1846009 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | Symbol | Locus(Total Locus:1) CDKN1C | 11p15.4 |
| Disease ID | 964 |
|---|---|
| Disease | image syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0000028 | Cryptorchidism HP:0000047 | Hypospadias HP:0000078 | Abnormality of the genital system HP:0002007 | Frontal bossing HP:0000126 | Hydronephrosis HP:0000369 | Low-set ears HP:0005280 | Depressed nasal bridge HP:0000835 | Adrenal hypoplasia HP:0001252 | Muscular hypotonia HP:0001511 | Intrauterine growth retardation HP:0100255 | Metaphyseal dysplasia HP:0002983 | Micromelia HP:0000135 | Hypogonadism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 964 |
|---|---|
| Disease | image 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs318240750 | NA | 1028 | CDKN1C | umls:C1846009 | CLINVAR | NA | 0.361628651 | NA | CDKN1C | 11 | 2884119 | C | G,A |
| rs387907223 | NA | 1028 | CDKN1C | umls:C1846009 | CLINVAR | NA | 0.361628651 | NA | CDKN1C | 11 | 2884129 | A | C |
| rs387907224 | NA | 1028 | CDKN1C | umls:C1846009 | CLINVAR | NA | 0.361628651 | NA | CDKN1C | 11 | 2884128 | A | G |
| rs387907225 | NA | 1028 | CDKN1C | umls:C1846009 | CLINVAR | NA | 0.361628651 | NA | CDKN1C | 11 | 2884670 | C | T |
| rs387907226 | NA | 1028 | CDKN1C | umls:C1846009 | CLINVAR | NA | 0.361628651 | NA | CDKN1C | 11 | 2884123 | T | C |
| rs515726203 | NA | 1028 | CDKN1C | umls:C1846009 | CLINVAR | NA | 0.361628651 | NA | CDKN1C | 11 | 2884675 | A | C |
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:0000078 | Abnormality of the genital system | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| 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) |
| 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:0000835 | Adrenal hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| 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:0000047 | Hypospadias | 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:0100255 | Metaphyseal dysplasia | 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:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000028 | Cryptorchidism | 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:0000078 | Abnormality of the genital system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002007 | Frontal bossing | 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:0000835 | Adrenal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000135 | Hypogonadism | 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 | 964 |
|---|---|
| Disease | image syndrome |
| Case | (Waiting for update.) |