Human Phenotype Ontology 
Grandparent Node:
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Abnormality of brain morphology (HP:0012443)help
Parent Node:
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Abnormal midbrain morphology (HP:0002418)help
..Starting node
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Molar tooth sign on MRI (HP:0002419)help
Term ID: 2419
Name: Molar tooth sign on MRI
Synonym: Molar tooth sign; Molar tooth sign on brain imaging; Molar tooth sign on imaging
Definition: An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
Comments:
Reference: HP:0002419
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal substantia nigra morphology (HP:0045007) help
..expandAbsent mesencephalon (HP:0007265) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002419HP:0002419Molar tooth sign on MRI0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0002419HP:0002419Molar tooth sign on MRI0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent175
HP:0002419HP:0002419Molar tooth sign on MRI0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0002419HP:0002419Molar tooth sign on MRI0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002419HP:0002419Molar tooth sign on MRI0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0002419HP:0002419Molar tooth sign on MRI0B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 27.28
HP:0002419HP:0002419Molar tooth sign on MRI0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0002419HP:0002419Molar tooth sign on MRI0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0002419HP:0002419Molar tooth sign on MRI0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0002419HP:0002419Molar tooth sign on MRI0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0002419HP:0002419Molar tooth sign on MRI0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0002419HP:0002419Molar tooth sign on MRI0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent247
HP:0002419HP:0002419Molar tooth sign on MRI0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0002419HP:0002419Molar tooth sign on MRI0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 31.7
HP:0002419HP:0002419Molar tooth sign on MRI0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent7
HP:0002419HP:0002419Molar tooth sign on MRI0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0002419HP:0002419Molar tooth sign on MRI0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0002419HP:0002419Molar tooth sign on MRI0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent342
HP:0002419HP:0002419Molar tooth sign on MRI0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4HP:0040283 - Occasional342
HP:0002419HP:0002419Molar tooth sign on MRI0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15.90
HP:0002419HP:0002419Molar tooth sign on MRI0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent90
HP:0002419HP:0002419Molar tooth sign on MRI0CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17.
HP:0002419HP:0002419Molar tooth sign on MRI0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0002419HP:0002419Molar tooth sign on MRI0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0002419HP:0002419Molar tooth sign on MRI0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent57
HP:0002419HP:0002419Molar tooth sign on MRI0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0002419HP:0002419Molar tooth sign on MRI0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0002419HP:0002419Molar tooth sign on MRI0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0002419HP:0002419Molar tooth sign on MRI0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0002419HP:0002419Molar tooth sign on MRI0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0002419HP:0002419Molar tooth sign on MRI0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent111
HP:0002419HP:0002419Molar tooth sign on MRI0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent24
HP:0002419HP:0002419Molar tooth sign on MRI0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0002419HP:0002419Molar tooth sign on MRI0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0002419HP:0002419Molar tooth sign on MRI0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0002419HP:0002419Molar tooth sign on MRI0KIAA0753 CL E G H985129110OMIM:617127Orofaciodigital syndrome XV.4
HP:0002419HP:0002419Molar tooth sign on MRI0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0002419HP:0002419Molar tooth sign on MRI0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0002419HP:0002419Molar tooth sign on MRI0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2.167
HP:0002419HP:0002419Molar tooth sign on MRI0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040281 - Very frequent167
HP:0002419HP:0002419Molar tooth sign on MRI0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0002419HP:0002419Molar tooth sign on MRI0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0002419HP:0002419Molar tooth sign on MRI0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent127
HP:0002419HP:0002419Molar tooth sign on MRI0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0002419HP:0002419Molar tooth sign on MRI0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 4.85
HP:0002419HP:0002419Molar tooth sign on MRI0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent85
HP:0002419HP:0002419Molar tooth sign on MRI0OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10201
HP:0002419HP:0002419Molar tooth sign on MRI0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0002419HP:0002419Molar tooth sign on MRI0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0002419HP:0002419Molar tooth sign on MRI0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0002419HP:0002419Molar tooth sign on MRI0PIBF1 CL E G H1046423352OMIM:617767Joubert syndrome 33.4
HP:0002419HP:0002419Molar tooth sign on MRI0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0002419HP:0002419Molar tooth sign on MRI0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0002419HP:0002419Molar tooth sign on MRI0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent167
HP:0002419HP:0002419Molar tooth sign on MRI0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0002419HP:0002419Molar tooth sign on MRI0TCTN1 CL E G H7960026113OMIM:614173Joubert syndrome 1345
HP:0002419HP:0002419Molar tooth sign on MRI0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 18.31
HP:0002419HP:0002419Molar tooth sign on MRI0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM107 CL E G H8431428128OMIM:617562Meckel syndrome 13.4
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM138 CL E G H5152426944OMIM:614465JOUBERT SYNDROME 16; JBTS1639
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent39
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent45
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040280 - Obligate33
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent33
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent82
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent82
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0002419HP:0002419Molar tooth sign on MRI0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6.166
HP:0002419HP:0002419Molar tooth sign on MRI0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0002419HP:0002419Molar tooth sign on MRI0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0002419HP:0002419Molar tooth sign on MRI0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent49


Genes (40) :AHI1 ARL13B ARL3 ARMC9 B9D1 B9D2 C2CD3 CC2D2A CEP104 CEP120 CEP290 CEP41 CPLANE1 CSPP1 EXOC2 FAM149B1 IFT74 INPP5E KIAA0586 KIAA0753 KIF7 MKS1 NPHP1 OFD1 PDE6D PIBF1 RPGRIP1L SUFU TCTN1 TCTN3 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS ZNF423

Diseases (53) :OMIM:608629 ORPHA:220493 OMIM:612291 OMIM:618161 OMIM:617622 OMIM:617120 OMIM:614175 ORPHA:434179 OMIM:615948 OMIM:619111 OMIM:612285 ORPHA:2318 OMIM:616781 OMIM:617761 OMIM:616300 OMIM:610188 OMIM:611134 OMIM:614464 OMIM:614615 ORPHA:2754 OMIM:277170 ORPHA:397715 OMIM:619306 OMIM:618763 OMIM:619582 OMIM:213300 OMIM:616546 OMIM:619476 OMIM:617127 OMIM:619479 OMIM:607131 OMIM:614120 ORPHA:166024 OMIM:617121 OMIM:249000 OMIM:609583 ORPHA:220497 OMIM:300804 OMIM:615665 OMIM:617767 OMIM:619113 OMIM:611560 OMIM:617757 OMIM:614173 OMIM:614815 OMIM:617562 OMIM:614465 OMIM:608091 OMIM:619562 OMIM:614970 OMIM:216360 OMIM:610688 OMIM:619185
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.