Human Phenotype Ontology 
Grandparent Node:
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Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
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Abnormal pineal morphology (HP:0012681)help
Parent Node:
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Aplasia/Hypoplasia involving the central nervous system (HP:0002977)help
..Starting node
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Agenesis of pineal gland (HP:0012687)help
Term ID: 12687
Name: Agenesis of pineal gland
Synonym:
Definition: Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.
Comments:
Reference: HP:0012687
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia involving the corticospinal tracts (HP:0007365) help
..expandAplasia/Hypoplasia of the brainstem (HP:0007362) help
..expandAplasia/Hypoplasia of the cerebellum (HP:0007360) help
..expandAplasia/Hypoplasia of the cerebrum (HP:0007364) help
..expandAplasia/Hypoplasia of the optic tract (HP:0011000) help
..expandAplasia/Hypoplasia of the pyramidal tract (HP:0007363) help
..expandAtrophy/Degeneration affecting the cerebrum (HP:0007369) help
..expandGlobal brain atrophy (HP:0002283) help
..expandHypoplasia of olfactory tract (HP:0007036) help
..expandHypoplasia of the olfactory bulb (HP:0040326) help
..expandHypoplastic olfactory lobes (HP:0006894) help
..expandOptic nerve hypoplasia (HP:0000609) 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:0012687HP:0012687Agenesis of pineal gland0VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 11.5


Genes (1) :VAX1

Diseases (1) :OMIM:614402
 

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