eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| walker-warburg syndrome | ||||
| Disease ID | 145 |
|---|---|
| Disease | walker-warburg syndrome |
| Definition | Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development. |
| Synonym | cerebro-ocular dysgenesis cerebroocular dysplasia muscular dystrophy syndrome cerebroocular dysplasia-muscular dystrophy syndrome chemke syndrome cod md syndrome cod-md syndrome cod-md syndromes congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies, type a1 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a1 disease, pomt1-related muscle-eye-brain diseases, pomt1-related muscle-eye-brain hard - hydrocephalus, agyria and retinal dysplasia hard e syndrome hard syndrome hard syndromes hydrocephalus, agyria and retinal dysplasia hydrocephalus, agyria, and retinal dysplasia mddga1 muscle eye brain disease, pomt1 related muscle-eye-brain disease, pomt1-related muscle-eye-brain diseases, pomt1-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 muscular dystrophy-dystroglycanopathy (congenital with eye and brain anomalies), type a, 1 pagon syndrome pagon syndromes pomt1-related muscle-eye-brain disease pomt1-related muscle-eye-brain diseases syndrome walker warburg syndrome warburgs syndrome, chemke syndrome, cod-md syndrome, hard syndrome, pagon syndrome, walker-warburg syndrome, warburg syndromes, cod-md syndromes, hard syndromes, pagon walker warburg syndrome walker-warburg congenital muscular dystrophy walker-warburg congenital muscular dystrophy (disorder) walker-warburg muscular dystrophy walker-warburg syndrome [disease/finding] walker-warburg syndrome or muscle-eye-brain disease, pomt1-related warburg syndrome warburg syndrome (disorder) wws |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265221 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:13) 55624 | POMGNT1 | CTD_human;ORPHANET;UNIPROT 79147 | FKRP | CTD_human;GHR;UNIPROT;ORPHANET 10329 | TMEM5 | ORPHANET 1282 | COL4A1 | ORPHANET 729920 | ISPD | CTD_human;ORPHANET;GHR 1605 | DAG1 | ORPHANET 148789 | B3GALNT2 | ORPHANET 10585 | POMT1 | CLINVAR;CTD_human;GHR;UNIPROT;ORPHANET 29954 | POMT2 | CTD_human;GHR;UNIPROT;ORPHANET 11041 | B4GAT1 | CLINVAR;ORPHANET 2218 | FKTN | CTD_human;GHR;UNIPROT;ORPHANET 84892 | POMGNT2 | ORPHANET 84197 | POMK | ORPHANET |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:34) 375790 | AGRN | 3.093 | DISEASES 85365 | ALG2 | 2.785 | DISEASES 257 | ALX3 | 1.498 | DISEASES 148789 | B3GALNT2 | 3.994 | DISEASES 825 | CAPN3 | 2.183 | DISEASES 859 | CAV3 | 1.118 | DISEASES 1282 | COL4A1 | 3.284 | DISEASES 1756 | DMD | 3.71 | DISEASES 22845 | DOLK | 2.579 | DISEASES 8813 | DPM1 | 1.977 | DISEASES 8818 | DPM2 | 2.847 | DISEASES 54344 | DPM3 | 4.579 | DISEASES 8291 | DYSF | 1.062 | DISEASES 10682 | EBP | 2.011 | DISEASES 79147 | FKRP | 6.889 | DISEASES 2290 | FOXG1 | 1.306 | DISEASES 2591 | GALNT3 | 1.044 | DISEASES 10020 | GNE | 1.28 | DISEASES 2804 | GOLGB1 | 1.46 | DISEASES 3339 | HSPG2 | 2.483 | DISEASES 729920 | ISPD | 5.126 | DISEASES 3908 | LAMA2 | 5.332 | DISEASES 11155 | LDB3 | 1.095 | DISEASES 3963 | LGALS7 | 1.04 | DISEASES 25834 | MGAT4C | 5.183 | DISEASES 146664 | MGAT5B | 3.056 | DISEASES 344022 | NOTO | 1.969 | DISEASES 5048 | PAFAH1B1 | 1.342 | DISEASES 5339 | PLEC | 1.155 | DISEASES 55624 | POMGNT1 | 6.751 | DISEASES 10585 | POMT1 | 7.515 | DISEASES 23336 | SYNM | 2.569 | DISEASES 10381 | TUBB3 | 1.129 | DISEASES 55906 | ZC4H2 | 3.354 | DISEASES |
| Locus | Symbol | Locus(Total Locus:14) |
| Disease ID | 145 |
|---|---|
| Disease | walker-warburg syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:51) HP:0001263 | Global developmental delay HP:0007227 | Macrogyria HP:0040081 | Abnormal levels of creatine kinase in blood HP:0000028 | Cryptorchidism HP:0001274 | Agenesis of corpus callosum HP:0000176 | Submucous cleft hard palate HP:0000568 | Microphthalmia HP:0000518 | Cataract HP:0002334 | Abnormality of the cerebellar vermis HP:0000541 | Retinal detachment HP:0001331 | Absent septum pellucidum HP:0002119 | Ventriculomegaly HP:0001321 | Cerebellar hypoplasia HP:0000587 | Abnormality of the optic nerve HP:0000358 | Posteriorly rotated ears HP:0001339 | Lissencephaly HP:0007973 | Retinal dysplasia HP:0008736 | Hypoplasia of penis HP:0002269 | Abnormality of neuronal migration HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature HP:0007731 | Chorioretinal dysplasia HP:0002536 | Abnormal cortical gyration HP:0000369 | Low-set ears HP:0000193 | Bifid uvula HP:0001265 | Hyporeflexia HP:0001302 | Pachygyria HP:0000612 | Iris coloboma HP:0001250 | Seizures HP:0000175 | Cleft palate HP:0007957 | Corneal opacity HP:0000256 | Macrocephaly HP:0012400 | Abnormal aldolase level HP:0045040 | Abnormal lactate dehydrogenase activity HP:0010508 | Metatarsus valgus HP:0000528 | Anophthalmia HP:0001284 | Areflexia HP:0000252 | Microcephaly HP:0000648 | Optic atrophy HP:0003560 | Muscular dystrophy HP:0001305 | Dandy-Walker malformation HP:0001249 | Intellectual disability HP:0000556 | Retinal dystrophy HP:0000411 | Protruding ear HP:0001324 | Muscle weakness HP:0002126 | Polymicrogyria HP:0001328 | Specific learning disability HP:0001252 | Muscular hypotonia HP:0000501 | Glaucoma HP:0000238 | Hydrocephalus HP:0003202 | Skeletal muscle atrophy HP:0000482 | Microcornea |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 145 |
|---|---|
| Disease | walker-warburg syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| FKTN | c.1167dupA | doi:10.1038/gim.2016.30 | Carrier screening in the era of expanding genetic technology |
| FKTN | c.1167_1168insA65 | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:22) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119462981 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131510401 | C | T |
| rs119462982 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131509801 | G | C |
| rs119462985 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1;LOC105376301 | 9 | 131518945 | C | G,T |
| rs119462986 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131521351 | G | C |
| rs149682171 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131522113 | C | T |
| rs149682171 | 24491487 | 10585 | POMT1 | umls:C0265221 | BeFree | Compound heterozygous mutations in POMT1 were identified including a previously reported nonsense mutation (c.2167dupG; p.Asp723Glyfs*8) associated with Walker-Warburg syndrome and a novel missense mutation in a highly conserved region of the protein O-mannosyltransferase 1 protein (c.1958C>T; p.Pro653Leu). | 0.486786047 | 2014 | POMT1 | 9 | 131522113 | C | T |
| rs150367385 | 15637732 | 10585 | POMT1 | umls:C0265221 | UNIPROT | Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. | 0.486786047 | 2005 | POMT1;LOC105376301 | 9 | 131519447 | C | G |
| rs200056620 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131513243 | C | T |
| rs28941782 | 12369018 | 10585 | POMT1 | umls:C0265221 | UNIPROT | Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. | 0.486786047 | 2002 | POMT1 | 9 | 131506217 | G | A |
| rs28941782 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131506217 | G | A |
| rs398124243 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | NA | NA | NA | NA | NA |
| rs398124244 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131506123 | A | C |
| rs398124245 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131523029 | - | G |
| rs398124247 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131510287 | C | T |
| rs587777817 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131522972 | - | G |
| rs587777818 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131515444 | CCT | - |
| rs587777819 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131523041 | TC | - |
| rs587777820 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131507505 | ATG | - |
| rs730882237 | NA | 11041 | B4GAT1 | umls:C0265221 | CLINVAR | NA | 0.240271442 | NA | B4GAT1;BRMS1;LOC102724064;LOC105369272 | 11 | 66346724 | - | AA |
| rs745738628 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131522931 | G | C |
| rs772370177 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131509761 | G | A,T |
| rs794727208 | NA | 10585 | POMT1 | umls:C0265221 | CLINVAR | NA | 0.486786047 | NA | POMT1 | 9 | 131521445 | 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:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001331 | Absent septum pellucidum | MP:0012004 | abnormal septum pellucidum morphology | any structural anomaly of the thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hip |
| HP:0001328 | Specific learning disability | MP:0002802 | abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001321 | Cerebellar hypoplasia | MP:0010422 | heart right ventricle hypoplasia | underdevelopment or reduced size of the heart right ventricle, often due to a reduced 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 |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| 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:0000541 | Retinal detachment | MP:0003099 | retinal detachment | detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002536 | Abnormal cortical gyration | MP:0000523 | cortical renal glomerulopathies | any disease of the capillary plexus in the kidney cortex |
| HP:0002269 | Abnormality of neuronal migration | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
| HP:0002334 | Abnormality of the cerebellar vermis | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| 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:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0000176 | Submucous cleft hard 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:0000612 | Iris coloboma | MP:0005262 | coloboma | anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation |
| HP:0000587 | Abnormality of the optic nerve | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
Mapped by homologous gene(Total Items:46) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000193 | Bifid uvula | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000411 | Protruding ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0002126 | Polymicrogyria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000556 | Retinal dystrophy | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001302 | Pachygyria | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001250 | Seizures | 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:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002334 | Abnormality of the cerebellar vermis | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001331 | Absent septum pellucidum | 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:0000501 | Glaucoma | 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:0000482 | Microcornea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002269 | Abnormality of neuronal migration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000518 | Cataract | 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:0007227 | Macrogyria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001265 | Hyporeflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0007731 | Chorioretinal dysplasia | MP:0012111 | failure of morula compaction | inability to initiate or maintain the first cell differentiation event in mammalian development, occurring at the late eight-cell stage in the mouse, whereby cells on the outer part of the morula become flattened and bound tightly together with the format |
| HP:0000541 | Retinal detachment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003560 | Muscular dystrophy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000358 | Posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001305 | Dandy-Walker malformation | 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:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001328 | Specific learning disability | 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:0001321 | Cerebellar hypoplasia | 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:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| 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: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:0007973 | Retinal dysplasia | MP:0013205 | abnormal nonmotile primary cilium morphology | any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate a |
| 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:0001339 | Lissencephaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000587 | Abnormality of the optic nerve | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| 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:0002536 | Abnormal cortical gyration | 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: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:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000176 | Submucous cleft hard palate | 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:0000648 | Optic atrophy | 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 |
| Disease ID | 145 |
|---|---|
| Disease | walker-warburg syndrome |
| Case | (Waiting for update.) |