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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   sirenomelia
  

Disease ID 1519
Disease sirenomelia
Definition
A disorder characterized by the malformation of the legs into a single lower limb.
Synonym
(sirenomelia (& [mermaid] or [sympus])
(sirenomelia (& [mermaid] or [sympus]) (disorder)
fused legs and feet
malformation, mermaid
mermaid malformation
mermaid sirenomelia
mermaid sirenomelia (disorder)
mermaid syndrome
sequence, sirenomelia
siren
sirenoform monster
sirenoform monster (disorder)
sirenomelia sequence
sirenomelia sequence (disorder)
sirenomelia sequences
sirenomelus
sirenomelus sequence
sirens
symelia
symmelia
symmelus
sympodia
sympus
sympus apus
syndrome, mermaid
syrenomelus
Orphanet
UMLS
C0037205
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:4)
C0014850  |  esophageal atresia  |  2
C0014850  |  oesophageal atresia  |  1
C0079924  |  oligohydramnios  |  1
C0003466  |  anal atresia  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1519
Disease sirenomelia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:10)
HP:0008678  |  Renal hypoplasia/aplasia
HP:0001626  |  Abnormality of the cardiovascular system
HP:0000079  |  Abnormality of the urinary system
HP:0006501  |  Aplasia/Hypoplasia of the radius
HP:0010305  |  Absence of the sacrum
HP:0002023  |  Anal atresia
HP:0010497  |  Sirenomelia
HP:0002575  |  Tracheoesophageal fistula
HP:0000062  |  Ambiguous genitalia
HP:0002414  |  Spina bifida
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:12)
Disease ID 1519
Disease sirenomelia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0345335  |  multicystic renal dysplasia
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:7)
HP ID HP Name MP ID MP Name Annotation
HP:0000062Ambiguous genitaliaMP:0009202small external male genitaliareduced size of the external masculine genital organs
HP:0002023Anal atresiaMP:0006130pulmonary valve atresiacongenital closure of the pulmonary valve
HP:0001626Abnormality of the cardiovascular systemMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0006501Aplasia/Hypoplasia of the radiusMP:0012167abnormal epigenetic regulation of gene expressionany anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA
HP:0002414Spina bifidaMP:0003054spina bifidacommon congenital midline defect of fusion of the vertebral arch
HP:0002575Tracheoesophageal fistulaMP:0003321tracheoesophageal fistulaan abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia
HP:0000079Abnormality of the urinary systemMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
Mapped by homologous gene(Total Items:9)
HP ID HP Name MP ID MP Name Annotation
HP:0002575Tracheoesophageal fistulaMP:3000003abnormal Ebner's gland morphologyany 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:0010497SirenomeliaMP:0012676dilated brain ventriclesthe luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid
HP:0000079Abnormality of the urinary systemMP:0020039increased bone ossificationincrease 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:0002023Anal atresiaMP:0020039increased bone ossificationincrease 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:0002414Spina bifidaMP:0013901absent female preputial glandabsence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti
HP:0001626Abnormality of the cardiovascular systemMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0006501Aplasia/Hypoplasia of the radiusMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0008678Renal hypoplasia/aplasiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000062Ambiguous genitaliaMP:0014198absent pituitary infundibular stalkabsence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
Disease ID 1519
Disease sirenomelia
Case(Waiting for update.)