Human Phenotype Ontology 
Grandparent Node:
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Abnormality of brain morphology (HP:0012443)help
Parent Node:
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Abnormal brainstem morphology (HP:0002363)help
..Starting node
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Brainstem dysplasia (HP:0002508)help
Term ID: 2508
Name: Brainstem dysplasia
Synonym: Brainstem hypoplasia/dysplasia; Malformation of brainstem structures
Definition: A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.
Comments:
Reference: HP:0002508
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal brainstem MRI signal intensity (HP:0012747) help
..expandAbnormal brainstem white matter morphology (HP:0012501) help
..expandAbnormal medulla oblongata morphology (HP:0011441) help
..expandAbnormal pons morphology (HP:0007361) help
..expandAplasia/Hypoplasia of the brainstem (HP:0007362) help
..expandAtrophy/Degeneration affecting the brainstem (HP:0007366) help
..expandBrain stem compression (HP:0002512) help
..expandEnlarged brainstem (HP:0012755) help
..expandKinked brainstem (HP:0012793) 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:0002508HP:0002508Brainstem dysplasia0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0002508HP:0002508Brainstem dysplasia0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0002508HP:0002508Brainstem dysplasia0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45


Genes (3) :INPP5E RPGRIP1L TMEM216

Diseases (3) :OMIM:213300 OMIM:611560 OMIM:608091
 

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