Human Phenotype Ontology 
Grandparent Node:
expandMorphological central nervous system abnormality (HP:0002011)help
Parent Node:
expandAplasia/Hypoplasia involving the central nervous system (HP:0002977)help
..Starting node
..expandAplasia/Hypoplasia of the optic tract (HP:0011000)help
Term ID: 11000
Name: Aplasia/Hypoplasia of the optic tract
Synonym: Absent/small optic tract; Absent/underdeveloped optic tract
Definition:
Comments:
Reference: HP:0011000
Genes and Diseases:
 
       Child Nodes:
........expandHypoplasia of the optic tract (HP:0007096) help
........expandAplasia of the optic tract (HP:0010999) help

 Sister Nodes: 
..expandAgenesis of pineal gland (HP:0012687) help
..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 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:0011000HP:0011000Aplasia/Hypoplasia of the optic tract0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0011000HP:0011000Aplasia/Hypoplasia of the optic tract0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0011000HP:0010999Aplasia of the optic tract1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0011000HP:0007096Hypoplasia of the optic tract1TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2


Genes (2) :BMP4 TRAPPC12

Diseases (2) :OMIM:607932 ORPHA:500144
 

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