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 corneal stroma (HP:0011492)help
Term ID: 11492
Name: Abnormality of corneal stroma
Synonym:
Definition: An abnormality of the stroma of cornea, also known as the substantia propria of cornea.
Comments:
Reference: HP:0011492
Genes and Diseases:
 
       Child Nodes:
........expandOpacification of the corneal stroma (HP:0007759) help
................... HP:0000531 Corneal crystals
................... HP:0007856 Punctate opacification of the cornea
................... HP:0008011 Peripheral opacification of the cornea
................... HP:0011493 Central opacification of the cornea
................... HP:0011494 Generalized opacification of the cornea
........expandProminent corneal nerve fibers (HP:0010726) help
........expandCorneal stromal edema (HP:0012040) 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 thickness (HP:0011486) help
..expandAbnormality of the corneal limbus (HP:0025348) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandAbnormality of the line of Schwalbe (HP:0008048) 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:
HP:0011492HP:0011492Abnormality of corneal stroma0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
HP:0011492HP:0011492Abnormality of corneal stroma1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
HP:0011492HP:0011492Abnormality of corneal stroma2GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
HP:0011492HP:0011492Abnormality of corneal stroma3GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
HP:0011492HP:0011492Abnormality of corneal stroma4GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (74) :ABCA1 AIRE ALDH18A1 APOB APOE ARSB B4GAT1 CHRDL1 CHST6 COL18A1 COL8A2 CTNS CTSA CYP1B1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FOXC1 FOXE3 GALNS GBA GJB2 GLB1 GNAS GNPTAB GNPTG IDUA JAG1 KERA KRT12 KRT3 LCAT LDLR LIFR MBTPS2 MCOLN1 MMP2 NAGA NDP NLRP3 NOD2 NTRK1 OCLN OVOL2 PAX6 PEX1 PEX2 PEX5 PITX2 PITX3 POLA1 POMGNT1 RAB23 RIPK4 SC5D SLC29A3 SLC4A11 SLC4A4 SMARCAL1 STS TGFBI TRAPPC2 TRPV3 UBIAD1 WDR73 WT1 XPA XPC ZEB1

Diseases (76) :148210 205400 3453 253200 615287 136800 256540 910 133540 216400 268300 88632 253000 231005 230650 253010 576 252500 252600 252605 607014 136120 245900 601559 308205 252650 79280 310600 148200 256800 251290 106210 148190 214100 614866 214110 107250 301220 253280 201000 263650 46059 607330 217400 217700 242900 461 308100 608470 313400 614594 251300 613270 217800 411629 219750 219900 219800 708 122100 259600 219150 144010 412 309300 267750 79443 118450 217300 143890 186580 122000 168569 604278 121900 121800
 

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