eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| craniofrontonasal dysplasia | ||||
| Disease ID | 691 |
|---|---|
| Disease | craniofrontonasal dysplasia |
| Definition | An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). |
| Synonym | cfnd cfns craniofrontonasal dysostosis craniofrontonasal dysplasia (disorder) craniofrontonasal syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0220767 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 257 | ALX3 | 6.236 | DISEASES 60529 | ALX4 | 2.78 | DISEASES 1896 | EDA | 1.298 | DISEASES 1945 | EFNA4 | 3.477 | DISEASES 1969 | EPHA2 | 1.487 | DISEASES 2048 | EPHB2 | 3.001 | DISEASES 2050 | EPHB4 | 2.195 | DISEASES 2263 | FGFR2 | 2.019 | DISEASES 2261 | FGFR3 | 1.983 | DISEASES 8481 | OFD1 | 2.814 | DISEASES 4983 | OPHN1 | 3.059 | DISEASES 64219 | PJA1 | 5.105 | DISEASES 5783 | PTPN13 | 2.47 | DISEASES 9754 | STARD8 | 3.404 | DISEASES 7503 | XIST | 3.347 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) EFNB1 | Xq13.1 |
| Disease ID | 691 |
|---|---|
| Disease | craniofrontonasal dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:79) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0200053 | Asymmetric leg shortening HP:0000767 | Funnel chest HP:0001357 | Plagiocephaly HP:0006709 | Aplasia/Hypoplasia of the nipples HP:0000577 | Exotropia HP:0002079 | Hypoplasia of the corpus callosum HP:0000349 | Hairline point HP:0001770 | Toe syndactyly HP:0000248 | Brachycephaly HP:0012813 | One underdeveloped breast HP:0001809 | Longitudinal splitting of nail HP:0000316 | Increased distance between eye sockets HP:0000218 | High palate HP:0000474 | Thickened nuchal skin fold HP:0000912 | Sprengel anomaly HP:0002224 | Woolly hair HP:0000767 | Pectus excavatum HP:0000470 | Decreased cervical height HP:0001156 | Brachydactyly syndrome HP:0000047 | Hypospadias HP:0004322 | Stature below 3rd percentile HP:0004209 | Clinodactyly of fifth digit HP:0006101 | Finger syndactyly HP:0000506 | Telecanthus HP:0002007 | Frontal bossing HP:0010719 | Abnormality of hair texture HP:0005278 | Small nasal tip HP:0000456 | Bifid tip of nose HP:0000316 | Hypertelorism HP:0000204 | Cleft upper lip HP:0001852 | Sandal gap HP:0000164 | Abnormality of the teeth HP:0000049 | Shawl scrotum HP:0005692 | Joint hyperflexibility HP:0002007 | Frontal protruberance HP:0000776 | Diaphragmatic hernia HP:0000407 | Sensorineural hearing impairment HP:0000175 | Palatoschisis HP:0008402 | Ridged fingernail HP:0001060 | Axillary pterygia HP:0000494 | Downslanted palpebral fissures HP:0001252 | Hypotonia HP:0000889 | Abnormality of the clavicle HP:0000324 | Asymmetry of face HP:0000324 | Facial asymmetry HP:0000349 | Widow's peak HP:0001547 | Abnormality of the rib cage HP:0001263 | Developmental retardation HP:0000457 | Depressed nasal ridge HP:0000912 | High scapula HP:0001807 | Grooved nails HP:0001388 | Joint laxity HP:0000252 | Microcephaly HP:0002650 | Scoliosis HP:0001537 | Umbilical hernias HP:0004440 | Craniosynostosis of coronal suture HP:0000431 | Broad nasal root HP:0004209 | Clinodactyly of the 5th finger HP:0000431 | Wide nasal bridge HP:0200021 | Down-sloping shoulders HP:0010059 | Broad hallux phalanx HP:0006585 | Congenital pseudoarthrosis of the clavicle HP:0000202 | Oral cleft HP:0001249 | Intellectual disability HP:0002162 | Low posterior hairline HP:0002162 | Low posterior hair line HP:0001363 | Craniosynostosis HP:0200021 | Rounded shoulders HP:0001808 | Brittle nails HP:0100490 | Camptodactyly of finger HP:0000494 | Downward slanting palpebral fissures HP:0001161 | Hand polydactyly HP:0010055 | Abnormally broad great toes HP:0001252 | Muscular hypotonia HP:0004122 | Midline defect of the nose HP:0001156 | Brachydactyly HP:0000776 | Congenital diaphragmatic hernia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 691 |
|---|---|
| Disease | craniofrontonasal dysplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1336970 | visual manifestations |
| 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:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894796 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68838820 | C | T |
| rs104894801 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68838649 | C | A,T |
| rs104894802 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68829885 | T | G |
| rs104894803 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68829886 | G | A |
| rs104894804 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68838684 | C | T |
| rs28935170 | 15166289 | 1947 | EFNB1 | umls:C0220767 | UNIPROT | Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. | 0.564885954 | 2004 | EFNB1 | X | 68839731 | G | T |
| rs28935170 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68839731 | G | T |
| rs28936069 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68839708 | G | A |
| rs28936069 | 15959873 | 1947 | EFNB1 | umls:C0220767 | UNIPROT | Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). | 0.564885954 | 2005 | EFNB1 | X | 68839708 | G | A |
| rs28936070 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68839709 | G | T |
| rs28936070 | 15166289 | 1947 | EFNB1 | umls:C0220767 | UNIPROT | Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. | 0.564885954 | 2004 | EFNB1 | X | 68839709 | G | T |
| rs28936071 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68839729 | A | G |
| rs28936071 | 15166289 | 1947 | EFNB1 | umls:C0220767 | UNIPROT | Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. | 0.564885954 | 2004 | EFNB1 | X | 68839729 | A | G |
| rs587777109 | NA | 1947 | EFNB1 | umls:C0220767 | CLINVAR | NA | 0.564885954 | NA | EFNB1 | X | 68839753 | C | 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: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:0006585 | Congenital pseudoarthrosis of the clavicle | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0000776 | Congenital diaphragmatic 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: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:0000889 | Abnormality of the clavicle | 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: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: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:0004209 | Clinodactyly of the 5th finger | 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0010055 | Broad hallux | MP:0009049 | abnormal hallux morphology | any structural anomaly of the first or primary digit of the foot |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| 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:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001807 | Ridged nail | MP:0012405 | abnormal nail matrix morphology | any structural anomaly of the nail-forming area of the nail bed comprised of a germinal matrix, responsible for most of the nail production, and the sterile matrix, a secondary site of nail production which is tightly adherent to the nail plate |
| 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:0002224 | Woolly hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0002079 | Hypoplasia of the corpus callosum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0010719 | Abnormality of hair texture | 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:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any 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: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:0001547 | Abnormality of the rib cage | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0000474 | Thickened nuchal skin fold | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0004122 | Midline defect of the nose | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| 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 |
Mapped by homologous gene(Total Items:64) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002162 | Low posterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000474 | Thickened nuchal skin fold | 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:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001161 | Hand polydactyly | 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:0006709 | Aplasia/Hypoplasia of the nipples | 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:0012813 | Unilateral breast hypoplasia | MP:0012757 | abnormal cranial neural crest cell migration | any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the cr |
| HP:0002224 | Woolly hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001547 | Abnormality of the rib cage | 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:0001852 | Sandal gap | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000456 | Bifid nasal tip | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| 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:0000506 | Telecanthus | 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:0005278 | Hypoplastic nasal tip | MP:0012757 | abnormal cranial neural crest cell migration | any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the cr |
| HP:0004122 | Midline defect of the nose | MP:0012757 | abnormal cranial neural crest cell migration | any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the cr |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200053 | Hemihypotrophy of lower limb | MP:0012757 | abnormal cranial neural crest cell migration | any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the cr |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000889 | Abnormality of the clavicle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001363 | Craniosynostosis | 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: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:0000248 | Brachycephaly | 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:0000457 | Depressed nasal ridge | 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:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001808 | Fragile nails | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0001388 | Joint laxity | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001263 | Global developmental delay | 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:0200021 | Down-sloping shoulders | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000912 | Sprengel anomaly | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000349 | Widow's peak | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0001809 | Split nail | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0004440 | Coronal craniosynostosis | 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: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:0006585 | Congenital pseudoarthrosis of the clavicle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000639 | Nystagmus | 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:0000577 | Exotropia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0008402 | Ridged fingernail | MP:0011096 | embryonic lethality between implantation and somite formation, complete penetrance | death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8) |
| HP:0000049 | Shawl scrotum | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0001807 | Ridged nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002079 | Hypoplasia of the 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:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0010719 | Abnormality of hair texture | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002007 | Frontal bossing | 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: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:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001060 | Axillary pterygia | MP:0012757 | abnormal cranial neural crest cell migration | any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the cr |
| HP:0010055 | Broad hallux | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 691 |
|---|---|
| Disease | craniofrontonasal dysplasia |
| Case | (Waiting for update.) |