Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
expand
Abnormal cornea morphology (HP:0000481)help
..Starting node
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Abnormal line of Schwalbe morphology (HP:0008048)help
Term ID: 8048
Name: Abnormal line of Schwalbe morphology
Synonym: Abnormality of the line of Schwalbe
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
..expandAbnormal corneal limbus morphology (HP:0025348) help
..expandAbnormal corneal stroma morphology (HP:0011492) 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 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0JAG1 CL E G H1826188OMIM:617992DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE257
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2138
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 213
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome32
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008048HP:0008048Abnormal line of Schwalbe morphology0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability2
HP:0008048HP:0000627Posterior embryotoxon1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0008048HP:0000627Posterior embryotoxon1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0008048HP:0000627Posterior embryotoxon1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0008048HP:0000627Posterior embryotoxon1DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0008048HP:0000627Posterior embryotoxon1DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0008048HP:0000627Posterior embryotoxon1DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0008048HP:0000627Posterior embryotoxon1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0008048HP:0000627Posterior embryotoxon1ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0008048HP:0000627Posterior embryotoxon1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0008048HP:0000627Posterior embryotoxon1FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040281 - Very frequent63
HP:0008048HP:0000627Posterior embryotoxon1FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0008048HP:0000627Posterior embryotoxon1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0008048HP:0000627Posterior embryotoxon1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008048HP:0000627Posterior embryotoxon1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008048HP:0000627Posterior embryotoxon1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008048HP:0000627Posterior embryotoxon1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0008048HP:0000627Posterior embryotoxon1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0008048HP:0000627Posterior embryotoxon1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0008048HP:0000627Posterior embryotoxon1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008048HP:0000627Posterior embryotoxon1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0008048HP:0000627Posterior embryotoxon1JAG1 CL E G H1826188OMIM:617992DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE257
HP:0008048HP:0000627Posterior embryotoxon1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0008048HP:0000627Posterior embryotoxon1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008048HP:0000627Posterior embryotoxon1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008048HP:0000627Posterior embryotoxon1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0008048HP:0000627Posterior embryotoxon1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0008048HP:0000627Posterior embryotoxon1NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2.138
HP:0008048HP:0000627Posterior embryotoxon1PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0008048HP:0000627Posterior embryotoxon1PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0008048HP:0000627Posterior embryotoxon1PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0008048HP:0000627Posterior embryotoxon1PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0008048HP:0000627Posterior embryotoxon1PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0008048HP:0000627Posterior embryotoxon1PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0008048HP:0000627Posterior embryotoxon1PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0008048HP:0000627Posterior embryotoxon1PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0008048HP:0000627Posterior embryotoxon1PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0008048HP:0000627Posterior embryotoxon1PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0008048HP:0000627Posterior embryotoxon1PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0008048HP:0000627Posterior embryotoxon1PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0008048HP:0000627Posterior embryotoxon1PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0008048HP:0000627Posterior embryotoxon1PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0008048HP:0000627Posterior embryotoxon1PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040283 - Occasional43
HP:0008048HP:0000627Posterior embryotoxon1PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040281 - Very frequent51
HP:0008048HP:0007873Abnormally prominent line of Schwalbe1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0008048HP:0000627Posterior embryotoxon1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0008048HP:0000627Posterior embryotoxon1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008048HP:0000627Posterior embryotoxon1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008048HP:0000627Posterior embryotoxon1SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2HP:0040283 - Occasional13
HP:0008048HP:0000627Posterior embryotoxon1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0008048HP:0000627Posterior embryotoxon1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0008048HP:0000627Posterior embryotoxon1TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome.32
HP:0008048HP:0000627Posterior embryotoxon1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0008048HP:0000627Posterior embryotoxon1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008048HP:0000627Posterior embryotoxon1YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040283 - Occasional2


Genes (59) :ARVCF BAZ1B BCL7B BUD23 CLIP2 COMT COX7B DGCR2 DGCR6 DGCR8 DNAJC30 EIF4H ELN ESS2 FKBP6 FOXC1 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HCCS HIRA HMX1 HS2ST1 JAG1 JMJD1C LIMK1 METTL27 MLXIPL NCF1 NDUFB11 NOTCH2 PAX6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3R1 PITX2 RFC2 RREB1 SEC24C SLC38A8 STX1A TBL2 TBX1 TMEM270 UFD1 VPS37D YAP1

Diseases (19) :ORPHA:567 ORPHA:904 ORPHA:2556 OMIM:192430 OMIM:601631 ORPHA:782 OMIM:602482 OMIM:612109 OMIM:619194 OMIM:118450 OMIM:617992 OMIM:610205 OMIM:604229 ORPHA:912 ORPHA:3163 OMIM:180500 OMIM:609218 OMIM:188400 ORPHA:1473
 

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