Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormal cornea morphology (HP:0000481)help
..Starting node
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Abnormality of the line of Schwalbe (HP:0008048)help
Term ID: 8048
Name: Abnormality of the line of Schwalbe
Synonym:
Definition: An abnormality of the line of Schwalbe.
Comments:
Reference: HP:0008048
Genes and Diseases:
 
       Child Nodes:
........expandPosterior embryotoxon (HP:0000627) help
........expandAbnormally prominent line of Schwalbe (HP:0007873) help

 Sister Nodes: 
..expandAbnormal corneal endothelium morphology (HP:0011488) help
..expandAbnormal corneal epithelium morphology (HP:0011495) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal size (HP:0001120) help
..expandAbnormality of corneal stroma (HP:0011492) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the corneal limbus (HP:0025348) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandCornea verticillata (HP:0500008) help
..expandCorneal degeneration (HP:0007705) help
..expandCorneal dystrophy (HP:0001131) help
..expandCorneal neovascularization (HP:0011496) help
..expandCorneal opacity (HP:0007957) help
..expandCorneal perforation (HP:0100583) help
..expandDecreased corneal reflex (HP:0008000) help
..expandDecreased corneal sensation (HP:0012155) help
..expandLimbal dermoid (HP:0001140) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008048HP:0008048Abnormality of the line of Schwalbe0 CL E G H
HP:0008048HP:0008048Abnormality of the line of Schwalbe1 CL E G H


Genes (44) :ARVCF BAZ1B CLIP2 COMT COX7B DGCR2 DGCR6 DGCR8 ELN ESS2 FOXC1 GP1BB GTF2I GTF2IRD1 HCCS HIRA JAG1 JMJD1C LIMK1 NDUFB11 NOTCH2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3R1 PITX2 RFC2 RREB1 SEC24C SLC38A8 TBL2 TBX1 UFD1 YAP1

Diseases (15) :567 904 2556 192430 601631 782 602482 118450 610205 912 3163 180500 609218 188400 1473
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.