PedAM
Pediatric Disease Annotations & Medicines
| moebius syndrome | ||||
| Disease ID | 850 |
|---|---|
| Disease | moebius syndrome |
| Definition | A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020) |
| Synonym | aglossia-adactyly syndrome charlie m. syndrome congen oculofacial paralysis moebius congenital facial diplegia syndrome congenital nuclear aplasia congenital oculofacial paralysis, moebius congenital ophthalmoplegia and facial paresis facial-limb disruptive spectrum glossopalatine ankylosis syndrome hypoglossia-hypodactyly syndrome mbs mobius syndrome mobius syndrome [disease/finding] mobius syndromes mobs - moebius syndrome moebius congen oculofacial paralysis moebius congenital oculofacial paralysis moebius congenital oculofacial paralysis (disorder) moebius sequence moebius spectrum moebius syndromes möbius sequence möbius syndrome möbius' syndrome oromandibular-limb hypogenesis spectrum oromandibular-limb hypogenesis spectrum (disorder) paralysis, oculofacial, congenital |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0221060 |
| MeSH | |
| 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 | Entrez_id | Symbol | Score | Resource(Total Genes:13) |
| Locus | (Waiting for update.) |
| Disease ID | 850 |
|---|---|
| Disease | moebius syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:87) HP:0000577 | Exotropia HP:0001256 | Mild mental retardation HP:0002015 | Dysphagia HP:0000932 | Abnormality of the posterior fossa HP:0000286 | Epicanthus HP:0001763 | Pes planus HP:0001156 | Brachydactyly HP:0008734 | Decreased testicular size HP:0000347 | Micrognathia HP:0001762 | Talipes equinovarus HP:0002075 | Dysdiadochokinesis HP:0008947 | Hypotonia early HP:0007957 | Corneal opacity HP:0000691 | Microdontia HP:0007565 | Multiple cafe-au-lait spots HP:0030084 | Clinodactyly HP:0002644 | Abnormal shape of pelvic girdle bone HP:0002098 | Respiratory distress HP:0009816 | Hypoplasia involving bones of the lower limbs HP:0001522 | Death in infancy HP:0000218 | High palate HP:0001288 | Gait disturbance HP:0000565 | Inward turning of one or both eyes HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones HP:0001171 | Hand ectrodactyly HP:0005914 | Metacarpal aplasia/hypoplasia HP:0000054 | Short penis HP:0000194 | Open mouth HP:0000568 | Abnormally small globe of eye HP:0006501 | Aplasia/Hypoplasia of the radius HP:0000316 | Increased distance between eye sockets HP:0000498 | Blepharitis HP:0002997 | Abnormality of the ulna HP:0004209 | Clinodactyly of the 5th finger HP:0004408 | Abnormality of the sense of smell HP:0002804 | Arthrogryposis multiplex congenita HP:0001188 | Clenched hands HP:0100783 | Breast aplasia HP:0006824 | Cranial nerve paralysis HP:0002312 | Clumsiness HP:0001349 | Facial paresis, bilateral HP:0001491 | Congenital fibrosis of the extraocular muscles HP:0001260 | Dysarthric speech HP:0000232 | Everted lower lip vermilion HP:0010295 | Aplasia/Hypoplasia of the tongue HP:0000298 | Lack of facial expression HP:0001270 | Motor delay HP:0001608 | Voice abnormality HP:0000298 | Mask-like facies HP:0004050 | Absent hand HP:0000164 | Abnormality of the teeth HP:0006101 | Finger syndactyly HP:0002015 | Swallowing difficulty HP:0001270 | Motor retardation HP:0001156 | Brachydactyly syndrome HP:0000486 | Strabismus HP:0000508 | Ptosis HP:0000365 | Hearing impairment HP:0001252 | Muscular hypotonia HP:0009601 | Aplasia/Hypoplasia of the thumb HP:0012385 | Camptodactyly HP:0000505 | Visual impairment HP:0009803 | Hypoplastic/small phalanges of the hand HP:0000347 | Hypoplasia of mandible HP:0000750 | Late-onset speech development HP:0000602 | Ophthalmoplegia HP:0001159 | Webbed fingers or toes HP:0009466 | Radially deviated phalanges HP:0000470 | Decreased cervical height HP:0009751 | Aplasia of the pectoralis major muscle HP:0001608 | Abnormality of the voice HP:0000175 | Cleft palate HP:0000218 | Increased palatal height HP:0002370 | Poor coordination HP:0000286 | Palpebronasal fold HP:0000717 | Autism HP:0005280 | Flat, nasal bridge HP:0009804 | Reduced number of teeth HP:0000193 | Uvula bifida HP:0000044 | Hypogonadotrophic hypogonadism HP:0010628 | Facial palsy HP:0001597 | Abnormality of the nail HP:0000377 | Malformation of auricle HP:0002365 | Hypoplasia of the brainstem HP:0008872 | Feeding difficulties in infancy HP:0003202 | Skeletal muscle atrophy HP:0001739 | Abnormality of the nasopharynx |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0000486 | Squint eyes | 1 HP:0001262 | Somnolence | 1 HP:0010628 | Facial palsy, unilateral or bilateral | 1 HP:0001335 | Bimanual synkinesia | 1 HP:0000717 | Autism | 1 HP:0100786 | Excessive sleepiness | 1 |
| Disease ID | 850 |
|---|---|
| Disease | moebius syndrome |
| 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.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0221060 | mifepristone | D015735 | 84371-65-3 | mobius syndrome | MESH:D020331 | marker/mechanism | 18460590 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |