eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fibrochondrogenesis | ||||
| Disease ID | 486 |
|---|---|
| Disease | fibrochondrogenesis |
| Definition | Fibrochondrogenesis is a rare[1] autosomal recessive[2] form of osteochondrodysplasia,[3] causing abnormal fibrous development of cartilage and related tissues.[4] - Wikipedia Reference: https://en.wikipedia.org/wiki/fibrochondrogenesis |
| Synonym | fibrochondrogenesis (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0265282 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 176 | ACAN | 3.233 | DISEASES 650 | BMP2 | 2.086 | DISEASES 1301 | COL11A1 | 5.605 | DISEASES 1302 | COL11A2 | 4.009 | DISEASES 1280 | COL2A1 | 2.976 | DISEASES 1297 | COL9A1 | 3.355 | DISEASES 1298 | COL9A2 | 3.291 | DISEASES 2261 | FGFR3 | 1.522 | DISEASES 2331 | FMOD | 2.961 | DISEASES 8972 | MGAM | 1.199 | DISEASES 26151 | NAT9 | 1.877 | DISEASES 6001 | RGS10 | 3.961 | DISEASES 387 | RHOA | 1.372 | DISEASES 6736 | SRY | 2.558 | DISEASES 25937 | WWTR1 | 2.989 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 486 |
|---|---|
| Disease | fibrochondrogenesis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0001357 | Plagiocephaly HP:0000160 | Narrow mouth HP:0000470 | Short neck HP:0000520 | Proptosis HP:0004322 | Short stature HP:0005280 | Depressed nasal bridge HP:0001156 | Brachydactyly syndrome HP:0000773 | Short ribs HP:0002983 | Micromelia HP:0000369 | Low-set ears HP:0000316 | Hypertelorism HP:0000774 | Narrow chest HP:0000772 | Abnormality of the ribs HP:0000494 | Downslanted palpebral fissures HP:0000175 | Cleft palate HP:0003312 | Abnormal form of the vertebral bodies HP:0002093 | Respiratory insufficiency HP:0000260 | Wide anterior fontanel HP:0001539 | Omphalocele HP:0000311 | Round face HP:0001591 | Bell-shaped thorax HP:0000364 | Hearing abnormality HP:0000463 | Anteverted nares HP:0000885 | Broad ribs HP:0100490 | Camptodactyly of finger HP:0001804 | Hypoplastic fingernail HP:0000944 | Abnormality of the metaphyses HP:0000882 | Hypoplastic scapulae HP:0000940 | Abnormal diaphysis morphology |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 486 |
|---|---|
| Disease | fibrochondrogenesis |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906611 | NA | 1301 | COL11A1 | umls:C0265282 | CLINVAR | NA | 0.240814326 | NA | COL11A1 | 1 | 102989562 | C | G |
| rs397514455 | NA | 1301 | COL11A1 | umls:C0265282 | CLINVAR | NA | 0.240814326 | NA | COL11A1 | 1 | 102946884 | C | G |
| rs730882190 | NA | 1301 | COL11A1 | umls:C0265282 | CLINVAR | NA | 0.240814326 | NA | COL11A1 | 1 | 103006072 | - | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000311 | Round face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0100490 | Camptodactyly of finger | 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:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000772 | Abnormality of the ribs | 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:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0000773 | Short ribs | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| HP:0003312 | Abnormal form of the vertebral bodies | 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: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 |
| HP:0000260 | Wide anterior fontanel | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0000885 | Broad ribs | MP:0004676 | wide ribs | an increase in the width of the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000882 | Hypoplastic scapulae | 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:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000940 | Abnormal diaphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001804 | Hypoplastic fingernail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| 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:0001357 | Plagiocephaly | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001591 | Bell-shaped thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000175 | Cleft palate | 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:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000260 | Wide anterior fontanel | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000885 | Broad ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000773 | Short ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 486 |
|---|---|
| Disease | fibrochondrogenesis |
| Case | (Waiting for update.) |