eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fraser syndrome | ||||
| Disease ID | 348 |
|---|---|
| Disease | fraser syndrome |
| Definition | Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome. |
| Synonym | cryptophthalmos syndactyly syndrome cryptophthalmos syndrome cryptophthalmos syndrome (disorder) cryptophthalmos with other malformations cryptophthalmos, defect of auricle and genital anomaly cryptophthalmos-syndactyly syndrome cryptophthalmos-syndactyly syndromes fraser syndrome (disorder) fraser syndrome [disease/finding] fraser's syndrome syndrome, fraser |
| Orphanet | |
| OMIM | |
| UMLS | C0265233 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 257 | ALX3 | 2.15 | DISEASES 2138 | EYA1 | 3.444 | DISEASES 158326 | FREM1 | 7.219 | DISEASES 166752 | FREM3 | 6.454 | DISEASES 2668 | GDNF | 1.809 | DISEASES 23426 | GRIP1 | 4.432 | DISEASES 256158 | HMCN2 | 5.497 | DISEASES 8516 | ITGA8 | 3.233 | DISEASES 3980 | LIG3 | 1.656 | DISEASES 4868 | NPHS1 | 1.017 | DISEASES 7827 | NPHS2 | 1.336 | DISEASES 255743 | NPNT | 3.407 | DISEASES 56034 | PDGFC | 2.277 | DISEASES 64220 | STRA6 | 2.657 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 348 |
|---|---|
| Disease | fraser syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:58) HP:0000028 | Cryptorchidism HP:0004112 | Midline nasal groove HP:0002089 | Pulmonary hypoplasia HP:0000568 | Microphthalmia HP:0002023 | Anal atresia HP:0000068 | Urethral atresia HP:0002777 | Tracheal stenosis HP:0010720 | Abnormal hair pattern HP:0001126 | Cryptophthalmos HP:0001770 | Toe syndactyly HP:0000218 | High palate HP:0000678 | Dental crowding HP:0005280 | Depressed nasal bridge HP:0008736 | Hypoplasia of penis HP:0000047 | Hypospadias HP:0006101 | Finger syndactyly HP:0000618 | Blindness HP:0002101 | Abnormal lung lobation HP:0001537 | Umbilical hernia HP:0002564 | Malformation of the heart and great vessels HP:0007993 | Malformed lacrimal ducts HP:0001362 | Skull defect HP:0000316 | Hypertelorism HP:0000204 | Cleft upper lip HP:0007925 | Lacrimal duct aplasia HP:0001522 | Death in infancy HP:0003183 | Wide pubic symphysis HP:0010297 | Bifid tongue HP:0000062 | Ambiguous genitalia HP:0001602 | Laryngeal stenosis HP:0000413 | Atresia of the external auditory canal HP:0002025 | Anal stenosis HP:0000148 | Vaginal atresia HP:0000003 | Multicystic kidney dysplasia HP:0003191 | Cleft ala nasi HP:0000252 | Microcephaly HP:0000528 | Anophthalmia HP:0001539 | Omphalocele HP:0000046 | Scrotal hypoplasia HP:0000813 | Bicornuate uterus HP:0002475 | Myelomeningocele HP:0000089 | Renal hypoplasia HP:0000370 | Abnormality of the middle ear HP:0000431 | Wide nasal bridge HP:0000405 | Conductive hearing impairment HP:0001249 | Intellectual disability HP:0000202 | Oral cleft HP:0006610 | Wide intermamillary distance HP:0010458 | Female pseudohermaphroditism HP:0000142 | Abnormality of the vagina HP:0003422 | Vertebral segmentation defect HP:0000368 | Low-set, posteriorly rotated ears HP:0001607 | Subglottic stenosis HP:0002084 | Encephalocele HP:0008572 | External ear malformation HP:0000689 | Dental malocclusion HP:0004397 | Ectopic anus HP:0000430 | Underdeveloped nasal alae |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001126 | Cryptophthalmos | 2 HP:0010958 | Bilateral renal agenesis | 1 HP:0005950 | Laryngeal webs | 1 HP:0000589 | Ocular coloboma | 1 HP:0000104 | Renal agenesis | 1 HP:0000528 | Absence of eyeballs | 1 HP:0001159 | Webbed fingers or toes | 1 |
| Disease ID | 348 |
|---|---|
| Disease | fraser 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:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs120074156 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78481962 | C | T |
| rs120074157 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78496859 | C | T |
| rs120074158 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78387525 | C | T |
| rs120074159 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78407804 | C | G |
| rs121434355 | NA | 341640 | FREM2 | umls:C0265233 | CLINVAR | NA | 0.563528744 | NA | FREM2 | 13 | 38784709 | G | A |
| rs121434356 | NA | 341640 | FREM2 | umls:C0265233 | CLINVAR | NA | 0.563528744 | NA | FREM2 | 13 | 38784703 | G | A |
| rs377046630 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78252452 | C | T |
| rs397514485 | NA | 23426 | GRIP1 | umls:C0265233 | CLINVAR | NA | 0.320814326 | NA | GRIP1 | 12 | 66392676 | C | G |
| rs397514486 | NA | 23426 | GRIP1 | umls:C0265233 | CLINVAR | NA | 0.320814326 | NA | GRIP1 | 12 | 66455423 | TCTT | - |
| rs730882178 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78438954 | TTCTCT | - |
| rs730882179 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78464518 | - | GG |
| rs730882180 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78472331 | G | T |
| rs794727195 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78317479 | G | - |
| rs794727365 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78364055 | G | A |
| rs797044696 | NA | 80144 | FRAS1 | umls:C0265233 | CLINVAR | NA | 0.444071628 | NA | FRAS1 | 4 | 78379803 | - | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000430 | Underdeveloped nasal alae | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0002101 | Abnormal lung lobation | MP:0010975 | abnormal lung lobe morphology | any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls |
| 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:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0003422 | Vertebral segmentation defect | MP:0010412 | atrioventricular septal defect | defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia |
| HP:0001362 | Skull defect | MP:0010418 | perimembraneous ventricular septal defect | abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated wi |
| HP:0000689 | Dental malocclusion | MP:0000120 | malocclusion | perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth |
| HP:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia | reduced size of the external masculine genital organs |
| HP:0000148 | Vaginal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0001537 | Umbilical hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0000142 | Abnormality of the vagina | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0000046 | Scrotal hypoplasia | MP:0006226 | iris hypoplasia | underdevelopment or reduced size of the iris, usually due to a reduced number of cells |
| HP:0000370 | Abnormality of the middle ear | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| 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 |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0008572 | External ear malformation | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0010297 | Bifid tongue | MP:0009907 | decreased tongue size | reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001522 | Death in infancy | MP:0000790 | abnormal stratification in cerebral cortex | abnormal formation or pattern of the layers of the cerebral cortex |
| HP:0000089 | Renal hypoplasia | MP:0012085 | midface hypoplasia | underdevelopment of the midfacial region comprising the nasal, maxillary, and zygomatic bones, leading to a concave-looking face |
| HP:0000813 | Bicornuate uterus | MP:0003558 | absent uterus | absence of the female muscular organ of gestation |
| 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: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:0008736 | Hypoplasia of penis | 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 |
Mapped by homologous gene(Total Items:56) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0004112 | Midline nasal groove | MP:0011961 | abnormal cornea thickness | increased or decreased width of the cornea in the center plane |
| HP:0003422 | Vertebral segmentation defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001362 | Skull defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000689 | Dental malocclusion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000370 | Abnormality of the middle ear | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001522 | Death in infancy | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000046 | Scrotal hypoplasia | 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 |
| HP:0006610 | Wide intermamillary distance | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002101 | Abnormal lung lobation | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000142 | Abnormality of the vagina | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0000148 | Vaginal atresia | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0007993 | Malformed lacrimal ducts | MP:0011961 | abnormal cornea thickness | increased or decreased width of the cornea in the center plane |
| HP:0000062 | Ambiguous genitalia | 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 |
| 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: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:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001602 | Laryngeal stenosis | 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:0000003 | Multicystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002475 | Myelomeningocele | MP:0013309 | adrenal gland cyst | presence of fluid-filled usually benign growths in the adrenal gland |
| HP:0008572 | External ear malformation | 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:0004397 | Ectopic anus | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0002023 | Anal atresia | 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: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:0000204 | Cleft upper lip | 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:0001607 | Subglottic stenosis | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002084 | Encephalocele | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000813 | Bicornuate uterus | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007925 | Lacrimal duct aplasia | MP:0011961 | abnormal cornea thickness | increased or decreased width of the cornea in the center plane |
| 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: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:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003191 | Cleft ala nasi | MP:0011961 | abnormal cornea thickness | increased or decreased width of the cornea in the center plane |
| HP:0010297 | Bifid tongue | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0003183 | Wide pubic symphysis | 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:0002025 | Anal stenosis | 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:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000202 | Oral cleft | 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 |
| HP:0000430 | Underdeveloped nasal alae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010458 | Female pseudohermaphroditism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000678 | Dental crowding | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008736 | Hypoplasia of penis | 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:0000089 | Renal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001126 | Cryptophthalmos | MP:0013389 | Meibomian gland hypoplasia | underdevelopment or reduced size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate, usually due to a reduced number of cells |
| HP:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000252 | Microcephaly | 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:0000068 | Urethral atresia | MP:0012739 | abnormal anterior primitive streak morphology | any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node |
| HP:0002777 | Tracheal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 348 |
|---|---|
| Disease | fraser syndrome |
| Case | (Waiting for update.) |