eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| craniofacial microsomia | ||||
| Disease ID | 1347 |
|---|---|
| Disease | craniofacial microsomia |
| Definition | Mandibulofacial dysostosis with congenital eyelid dermoids. |
| Synonym | craniofacial microsomia (disorder) craniofacial microsomias disease, goldenhar dysostoses, otomandibular dysostosis, otomandibular dysplasia, facioauriculovertebral dysplasia, lateral facial dysplasia, oculoauriculovertebral dysplasias, facioauriculovertebral dysplasias, lateral facial dysplasias, oculoauriculovertebral facial dysplasia, lateral facial dysplasias, lateral facio-auriculo-vertebral spectrum facio-auriculo-vertebral spectrum (disorder) facio-auriculo-vertebral spectrum (disorder) [ambiguous] facioauriculovertebral dysplasia facioauriculovertebral dysplasias facioauriculovertebral sequence facioauriculovertebral sequences fav sequence first and second branchial arch syndrome first and second branchial arch syndrome (disorder) first and second pharyngeal arch syndromes first arch syndrome first arch syndrome (disorder) first arch syndrome, nos goldenhar disease goldenhar gorlin syndrome goldenhar syndrome goldenhar syndrome (disorder) goldenhar syndrome [disease/finding] goldenhar's syndrome goldenhar-gorlin syndrome goldenhar-gorlin syndromes goldenhars syndrome hemifacial microsomia lateral facial dysplasia lateral facial dysplasias microsomia, craniofacial microsomias, craniofacial moeschler clarren syndrome oav (oculoauriculovertebral) dysplasia oav dysplasia oavs oculoauricular vertebral dysplasia oculoauriculovertebral dysplasia oculoauriculovertebral dysplasias oculoauriculovertebral spectrum oculoauriculovertebral spectrums oculoauriculovertebral syndrome oral mandibular auricular syndrome oral-mandibular-auricular syndrome oral-mandibular-auricular syndromes otomandibular dysostoses otomandibular dysostosis otomandibular dysostosis (disorder) otomandibular syndrome syndrome goldenhar syndrome, goldenhar syndrome, goldenhar-gorlin syndrome, moeschler clarren syndrome, oculoauriculovertebral syndrome, oral-mandibular-auricular syndromes, goldenhar-gorlin syndromes, oral-mandibular-auricular |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265240 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0011649 | dermoid | 3 C0034013 | precocious puberty | 1 C0013261 | duane syndrome | 1 C0037315 | sleep apnoea | 1 C0020255 | hydrocephalus | 1 C0265343 | vertebral anomalies | 1 C0265264 | holt-oram syndrome | 1 C0520679 | obstructive sleep apnoea | 1 C0037315 | sleep apnea | 1 C0025149 | medulloblastoma | 1 C0265240 | oculoauriculovertebral dysplasia | 1 C0520679 | obstructive sleep apnea | 1 C0265240 | goldenhar syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:35) 257 | ALX3 | 4.453 | DISEASES 2972 | BRF1 | 4.087 | DISEASES 1025 | CDK9 | 1.473 | DISEASES 55636 | CHD7 | 1.905 | DISEASES 1123 | CHN1 | 3.581 | DISEASES 387836 | CLEC2A | 2.122 | DISEASES 9343 | EFTUD2 | 3.043 | DISEASES 1969 | EPHA2 | 1.461 | DISEASES 2104 | ESRRG | 2.514 | DISEASES 2138 | EYA1 | 2.709 | DISEASES 26190 | FBXW2 | 2.518 | DISEASES 2245 | FGD1 | 2.764 | DISEASES 2253 | FGF8 | 2.002 | DISEASES 2736 | GLI2 | 1.694 | DISEASES 2882 | GPX7 | 3.114 | DISEASES 3481 | IGF2 | 1.468 | DISEASES 79104 | MEG8 | 1.994 | DISEASES 4661 | MYT1 | 4.729 | DISEASES 4700 | NDUFA6 | 1.997 | DISEASES 579 | NKX3-2 | 3.99 | DISEASES 100506658 | OCLN | 1.153 | DISEASES 8481 | OFD1 | 2.699 | DISEASES 5015 | OTX2 | 2.266 | DISEASES 5077 | PAX3 | 1.479 | DISEASES 139728 | PNCK | 2.365 | DISEASES 64840 | PORCN | 2.703 | DISEASES 5727 | PTCH1 | 1.032 | DISEASES 5915 | RARB | 2.698 | DISEASES 5916 | RARG | 2.578 | DISEASES 9939 | RBM8A | 1.758 | DISEASES 222546 | RFX6 | 2.644 | DISEASES 6949 | TCOF1 | 2.941 | DISEASES 55503 | TRPV6 | 2.206 | DISEASES 157680 | VPS13B | 2.248 | DISEASES 8565 | YARS | 2.333 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1347 |
|---|---|
| Disease | craniofacial microsomia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:40) HP:0000486 | Squint eyes HP:0002089 | Hypoplastic lungs HP:0009794 | Branchial anomalies HP:0000581 | Blepharophimosis HP:0000347 | Hypoplasia of mandible HP:0001274 | Absent corpus callosum HP:0001629 | Ventricular septal defects HP:0000074 | Ureteropelvic junction obstruction HP:0000086 | Ectopic kidney HP:0001680 | Coarctation of aorta HP:0008605 | Unilateral external ear deformity HP:0000104 | Renal agenesis HP:0001636 | Tetrology of fallot HP:0002308 | Chiari malformation HP:0000204 | Cleft upper lip HP:0002085 | Occipital encephalocele HP:0000175 | Palatoschisis HP:0009892 | Anotia HP:0000384 | Preauricular skin tag HP:0001249 | Mental retardation HP:0008417 | Vertebral hypoplasia HP:0004660 | Deficiency of facial musculature HP:0000324 | Asymmetry of face HP:0000003 | Multicystic kidney dysplasia HP:0000327 | Maxillary micrognathia HP:0000528 | Absence of eyeballs HP:0001643 | Persistent ductus arteriosus HP:0000154 | Large mouth HP:0001140 | Epibulbar dermoid HP:0003305 | Block vertebrae HP:0000413 | External auditory meatal atresia HP:0000272 | Depressed malar region HP:0000405 | Conductive hearing loss HP:0002937 | Hemivertebra HP:0000238 | Nonsyndromal hydrocephalus HP:0000636 | Upper eyelid colobomas HP:0000407 | sensorineural hearing loss HP:0000568 | Abnormally small globe of eye HP:0000076 | Vesicoureteric reflux HP:0008551 | Hypoplasia of the external ear |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:27) HP:0000347 | Hypoplasia of mandible | 6 HP:0008551 | Hypoplasia of the external ear | 4 HP:0000589 | Ocular coloboma | 3 HP:0010535 | Sleep apnea | 2 HP:0000324 | Asymmetry of face | 2 HP:0000826 | Precocious puberty | 1 HP:0011968 | Feeding difficulties | 1 HP:0007209 | Facial paresis | 1 HP:0006315 | Single central upper incisor | 1 HP:0002308 | Chiari malformation | 1 HP:0002870 | Obstructive sleep apnea | 1 HP:0003468 | Vertebral anomalies | 1 HP:0000154 | Large mouth | 1 HP:0002781 | Upper airway obstruction | 1 HP:0000772 | Rib anomalies | 1 HP:0002089 | Hypoplastic lungs | 1 HP:0000238 | Nonsyndromal hydrocephalus | 1 HP:0000598 | Ear anomaly | 1 HP:0010807 | Open bite between upper and lower teeth | 1 HP:0002885 | Medulloblastoma | 1 HP:0030021 | Auricular tag | 1 HP:0000625 | Eyelid coloboma | 1 HP:0002104 | Absence of spontaneous respiration | 1 HP:0000384 | Preauricular skin tag | 1 HP:0001627 | Congenital heart defects | 1 HP:0003974 | Absent ossification/absence of radius | 1 HP:0000636 | Upper eyelid colobomas | 1 |
| Disease ID | 1347 |
|---|---|
| Disease | craniofacial microsomia |
| 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: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:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008417 | Vertebral hypoplasia | MP:0006221 | optic nerve hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the fibers in the optic nerve |
| HP:0000086 | Ectopic kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000384 | Preauricular skin tag | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0000413 | Atresia of the external auditory canal | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001274 | Agenesis of corpus callosum | MP:0013808 | abnormal tunnel of Corti morphology | any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0001636 | Tetralogy of Fallot | MP:0011665 | d-loop transposition of the great arteries | complete 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 |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0000636 | Upper eyelid coloboma | MP:0001340 | abnormal eyelid morphology | any structural anomaly of the skin folds covering the front of the eyeball |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000327 | Hypoplasia of the maxilla | 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:0000074 | Ureteropelvic junction obstruction | MP:0003270 | intestinal obstruction | any impediment, blockage, or reversal of the normal flow of the intestinal contents toward the anus |
| HP:0003305 | Block vertebrae | MP:0004653 | absent caudal vertebrae | absence of all of the bony segments of the coccyx or tail |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0002089 | Pulmonary 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:0001680 | Coarctation of aorta | MP:0011665 | d-loop transposition of the great arteries | complete 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 |
| HP:0000003 | Multicystic kidney dysplasia | MP:0011376 | abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
Mapped by homologous gene(Total Items:38) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000154 | Wide mouth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000528 | Anophthalmia | 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:0000486 | Strabismus | 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:0002085 | Occipital encephalocele | MP:0013901 | absent female preputial gland | absence 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:0008551 | Microtia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001680 | Coarctation of aorta | 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:0001629 | Ventricular septal defect | 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:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002308 | Arnold-Chiari malformation | 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:0000003 | Multicystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000413 | Atresia of the external auditory canal | 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:0000407 | Sensorineural hearing impairment | 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:0000581 | Blepharophimosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000384 | Preauricular skin tag | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0002937 | Hemivertebrae | 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:0003305 | Block vertebrae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001140 | Epibulbar dermoid | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001643 | Patent ductus arteriosus | 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:0000636 | Upper eyelid coloboma | MP:0012702 | increased embryonic neuroepithelium thickness | increased width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000086 | Ectopic kidney | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0001636 | Tetralogy of Fallot | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0000568 | Microphthalmia | 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: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:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000074 | Ureteropelvic junction obstruction | MP:0013901 | absent female preputial gland | absence 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:0008417 | Vertebral hypoplasia | 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:0009794 | Branchial anomaly | MP:0013550 | abnormal secondary palate morphology | |
| HP:0009892 | Anotia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001274 | Agenesis of corpus callosum | 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:0002089 | Pulmonary hypoplasia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000104 | Renal agenesis | 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 |
| Disease ID | 1347 |
|---|---|
| Disease | craniofacial microsomia |
| Case | (Waiting for update.) |