eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| joubert syndrome | ||||
| Disease ID | 252 |
|---|---|
| Disease | joubert syndrome |
| Definition | A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia. |
| Synonym | agenesis of cerebellar vermis cerebellar vermis agenesis cerebellar vermis aplasia cerebello-oculo-renal syndrome cerebellooculorenal syndrome 1 cerebelloparenchymal disorder 4 cerebelloparenchymal disorder iv cors1 cpd4 familial aplasia of the vermis familial aplasia of the vermis (disorder) jbts jbts1 joubert syndrome (disorder) joubert syndrome 1 joubert-boltshauser syndrome jouberts syndrome syndrome joubert |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0431399 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0010964 | dandy-walker malformation | 2 C0687120 | nephronophthisis | 1 C0014544 | epileptic seizures | 1 C0037315 | sleep apnea | 1 C0025958 | microcephaly | 1 C0022658 | renal disease | 1 C0035334 | retinitis pigmentosa | 1 C0022658 | kidney disease | 1 C0014544 | epileptic seizure | 1 C0005745 | ptosis | 1 C0085113 | neurofibromatosis | 1 C0030353 | papilledema | 1 C0520680 | central sleep apnea | 1 C0035333 | retinitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:13) 51259 | TMEM216 | GHR 8481 | OFD1 | GHR 23322 | RPGRIP1L | CLINVAR;GHR;UNIPROT 80184 | CEP290 | CLINVAR;GHR;UNIPROT 65062 | TMEM237 | CLINVAR 91147 | TMEM67 | CLINVAR;GHR;UNIPROT 54806 | AHI1 | GHR;UNIPROT 4867 | NPHP1 | GHR;UNIPROT 56623 | INPP5E | CLINVAR;CTD_human;GHR;UNIPROT 80776 | B9D2 | CLINVAR 57545 | CC2D2A | CLINVAR;GHR;UNIPROT 79600 | TCTN1 | CTD_human 200894 | ARL13B | GHR;UNIPROT |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:94) 23746 | AIPL1 | 1.548 | DISEASES 54840 | APTX | 1.474 | DISEASES 392509 | ARL13A | 5.796 | DISEASES 200894 | ARL13B | 6.885 | DISEASES 114899 | C1QTNF3 | 2.284 | DISEASES 26005 | C2CD3 | 3.272 | DISEASES 65250 | C5orf42 | 5.268 | DISEASES 100190949 | C5orf52 | 3.779 | DISEASES 825 | CAPN3 | 1.077 | DISEASES 57545 | CC2D2A | 6.351 | DISEASES 387707 | CC2D2B | 4.27 | DISEASES 79140 | CCDC28B | 2.948 | DISEASES 9738 | CCP110 | 3.584 | DISEASES 8814 | CDKL1 | 2.951 | DISEASES 8999 | CDKL2 | 3.201 | DISEASES 51286 | CEND1 | 2.865 | DISEASES 1063 | CENPF | 1.572 | DISEASES 9731 | CEP104 | 4.791 | DISEASES 80184 | CEP290 | 6.76 | DISEASES 1069 | CETN2 | 2.259 | DISEASES 9793 | CKAP5 | 2.148 | DISEASES 54875 | CNTLN | 4.84 | DISEASES 23418 | CRB1 | 2.051 | DISEASES 2017 | CTTN | 1.791 | DISEASES 51473 | DCDC2 | 1.885 | DISEASES 1855 | DVL1 | 1.372 | DISEASES 79659 | DYNC2H1 | 2.29 | DISEASES 10640 | EXOC5 | 2.803 | DISEASES 23265 | EXOC7 | 2.416 | DISEASES 149371 | EXOC8 | 2.936 | DISEASES 2253 | FGF8 | 1.025 | DISEASES 2302 | FOXJ1 | 1.835 | DISEASES 2737 | GLI3 | 2.402 | DISEASES 2804 | GOLGB1 | 1.267 | DISEASES 6011 | GRK1 | 1.678 | DISEASES 9001 | HAP1 | 3.54 | DISEASES 23354 | HAUS5 | 5.015 | DISEASES 219844 | HYLS1 | 2.294 | DISEASES 9742 | IFT140 | 3.857 | DISEASES 80173 | IFT74 | 3.012 | DISEASES 8100 | IFT88 | 2.709 | DISEASES 3614 | IMPDH1 | 1.649 | DISEASES 3633 | INPP5B | 2.332 | DISEASES 3635 | INPP5D | 1.525 | DISEASES 56623 | INPP5E | 4.715 | DISEASES 51763 | INPP5K | 2.702 | DISEASES 3749 | KCNC4 | 2.433 | DISEASES 9851 | KIAA0753 | 2.705 | DISEASES 11127 | KIF3A | 1.765 | DISEASES 374654 | KIF7 | 4.404 | DISEASES 284217 | LAMA1 | 1.998 | DISEASES 167691 | LCA5 | 3.751 | DISEASES 100131814 | LINC00271 | 3.487 | DISEASES 9227 | LRAT | 2.085 | DISEASES 9053 | MAP7 | 2.656 | DISEASES 54903 | MKS1 | 5.4 | DISEASES 23310 | NCAPD3 | 2.775 | DISEASES 54820 | NDE1 | 1.774 | DISEASES 4703 | NEB | 1.468 | DISEASES 4750 | NEK1 | 2.453 | DISEASES 27031 | NPHP3 | 2.917 | DISEASES 261734 | NPHP4 | 4.35 | DISEASES 11247 | NXPH4 | 2.987 | DISEASES 4952 | OCRL | 2.727 | DISEASES 8481 | OFD1 | 5.526 | DISEASES 128344 | PIFO | 2.685 | DISEASES 282809 | POC1B | 3.092 | DISEASES 5991 | RFX3 | 2.659 | DISEASES 64221 | ROBO3 | 2.874 | DISEASES 6103 | RPGR | 3.46 | DISEASES 57096 | RPGRIP1 | 4.006 | DISEASES 23322 | RPGRIP1L | 5.945 | DISEASES 10806 | SDCCAG8 | 2.096 | DISEASES 54549 | SDK2 | 3.457 | DISEASES 6586 | SLIT3 | 1.161 | DISEASES 55812 | SPATA7 | 2.629 | DISEASES 79600 | TCTN1 | 5.225 | DISEASES 200728 | TMEM17 | 4.309 | DISEASES 51259 | TMEM216 | 6.096 | DISEASES 79583 | TMEM231 | 5.007 | DISEASES 65062 | TMEM237 | 5.402 | DISEASES 91147 | TMEM67 | 6.767 | DISEASES 283232 | TMEM80 | 4.131 | DISEASES 7106 | TSPAN4 | 1.693 | DISEASES 79989 | TTC26 | 3.823 | DISEASES 284076 | TTLL6 | 3.306 | DISEASES 7289 | TULP3 | 2.686 | DISEASES 7329 | UBE2I | 1.369 | DISEASES 9094 | UNC119 | 1.673 | DISEASES 57216 | VANGL2 | 1.521 | DISEASES 157680 | VPS13B | 1.271 | DISEASES 57728 | WDR19 | 2.414 | DISEASES 63929 | XPNPEP3 | 3.034 | DISEASES 7546 | ZIC2 | 1.606 | DISEASES |
| Locus | Symbol | Locus(Total Locus:16) |
| Disease ID | 252 |
|---|---|
| Disease | joubert syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:3) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| KIAA0586 | Chr14:g.58910876C>T, heterozygous;NM_001244189.1, NP_001231118.1;c.949C>T, p.(Gln317*);Chr14:g.58899157delG, heterozygous;NM_001244189.1, NP_001231118.1;c.428delG, p.(Arg143Lysfs*4) | doi:10.1038/gim.2016.1 | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
| C5orf42 | c.8263dupA | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| TMEM216 | p.R73L40 | 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:23) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434350 | 23532844 | 54806 | AHI1 | umls:C0431399 | BeFree | The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. | 0.005971721 | 2013 | AHI1 | 6 | 135455750 | A | T |
| rs121434350 | 23532844 | 4867 | NPHP1 | umls:C0431399 | BeFree | We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). | 0.005895776 | 2013 | AHI1 | 6 | 135455750 | A | T |
| rs121434350 | 23532844 | 328 | APEX1 | umls:C0431399 | BeFree | However, we show that HAP1 has decreased binding to AHI1-V443D indicating that this altered binding could be responsible for the JBTS-like phenotype through an unknown pathway. | 0.000271442 | 2013 | AHI1 | 6 | 135455750 | A | T |
| rs121434350 | 23532844 | 9001 | HAP1 | umls:C0431399 | BeFree | However, we show that HAP1 has decreased binding to AHI1-V443D indicating that this altered binding could be responsible for the JBTS-like phenotype through an unknown pathway. | 0.000271442 | 2013 | AHI1 | 6 | 135455750 | A | T |
| rs121918129 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136432562 | C | T |
| rs121918198 | 17960139 | 4867 | NPHP1 | umls:C0431399 | BeFree | Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. | 0.005895776 | 2007 | RPGRIP1L | 16 | 53652844 | T | G |
| rs199469707 | NA | 65062 | TMEM237 | umls:C0431399 | CLINVAR | NA | 0.120271442 | NA | TMEM237 | 2 | 201640915 | G | A |
| rs200407856 | NA | 57545 | CC2D2A | umls:C0431399 | CLINVAR | NA | 0.121628651 | NA | CC2D2A | 4 | 15516005 | G | A |
| rs386833750 | NA | 57545 | CC2D2A | umls:C0431399 | CLINVAR | NA | 0.121628651 | NA | CC2D2A | 4 | 15563485 | C | A,G,T |
| rs386834149 | NA | 80184 | CEP290 | umls:C0431399 | CLINVAR | NA | 0.12434307 | NA | CEP290 | 12 | 88120185 | T | - |
| rs397514726 | 23532844 | 4867 | NPHP1 | umls:C0431399 | BeFree | We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). | 0.005895776 | 2013 | AHI1 | 6 | 135457593 | C | T,A |
| rs61747071 | NA | 23322 | RPGRIP1L | umls:C0431399 | CLINVAR | NA | 0.121900093 | NA | RPGRIP1L | 16 | 53686524 | C | T |
| rs746212325 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136434769 | C | A,T |
| rs746867724 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136431090 | G | A |
| rs752300607 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136430325 | C | T |
| rs754637179 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136434127 | G | A |
| rs757222534 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136431905 | C | T |
| rs775518991 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136430319 | A | - |
| rs775883520 | NA | 91147 | TMEM67 | umls:C0431399 | CLINVAR | NA | 0.121628651 | NA | TMEM67 | 8 | 93780603 | A | G |
| rs778149316 | NA | 23322 | RPGRIP1L | umls:C0431399 | CLINVAR | NA | 0.121900093 | NA | RPGRIP1L | 16 | 53652977 | - | T |
| rs780882740 | NA | 56623 | INPP5E | umls:C0431399 | CLINVAR | NA | 0.361357209 | NA | INPP5E | 9 | 136434050 | C | T |
| rs786204135 | NA | 23322 | RPGRIP1L | umls:C0431399 | CLINVAR | NA | 0.121900093 | NA | RPGRIP1L | 16 | 53696150 | C | T |
| rs786204189 | NA | 80776 | B9D2 | umls:C0431399 | CLINVAR | NA | 0.12 | NA | B9D2 | 19 | 41357948 | CCATGTCC | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002793 | Abnormal pattern of respiration | MP:0010954 | abnormal cellular respiration | anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration) |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0000276 | Long face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0001696 | Situs inversus totalis | MP:0011252 | situs inversus totalis | the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia) |
| HP:0001320 | Cerebellar vermis hypoplasia | MP:0000866 | cerebellum vermis hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the vermis |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| 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:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0001829 | Foot 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: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:0003312 | Abnormal form of the vertebral bodies | 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: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:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0000426 | Prominent nasal bridge | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
| 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 |
Mapped by homologous gene(Total Items:36) | ||||
|---|---|---|---|---|
| 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:0002126 | Polymicrogyria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001320 | Cerebellar vermis hypoplasia | 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: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: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: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:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001696 | Situs inversus totalis | 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:0000657 | Oculomotor apraxia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | 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:0002553 | Highly arched eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0007370 | Aplasia/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:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002084 | Encephalocele | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000426 | Prominent nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001829 | Foot polydactyly | 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:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002104 | Apnea | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| 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: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:0002793 | Abnormal pattern of respiration | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0008872 | Feeding difficulties in infancy | 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: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:0003312 | Abnormal form of the vertebral bodies | 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:0004422 | Biparietal narrowing | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| 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: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:0002876 | Episodic tachypnea | MP:0013214 | decreased embryonic neuroepithelium primary cilium number | reduced number of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and n |
| Disease ID | 252 |
|---|---|
| Disease | joubert syndrome |
| Case | (Waiting for update.) |