Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormal line of Schwalbe morphology (HP:0008048)help
..Starting node
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Posterior embryotoxon (HP:0000627)help
Term ID: 627
Name: Posterior embryotoxon
Synonym: Embryotoxon
Definition: A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
Comments:
Reference: HP:0000627
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormally prominent line of Schwalbe (HP:0007873) 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:0000627HP:0000627Posterior embryotoxon0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000627HP:0000627Posterior embryotoxon0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000627HP:0000627Posterior embryotoxon0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0000627HP:0000627Posterior embryotoxon0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0000627HP:0000627Posterior embryotoxon0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0000627HP:0000627Posterior embryotoxon0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0000627HP:0000627Posterior embryotoxon0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000627HP:0000627Posterior embryotoxon0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0000627HP:0000627Posterior embryotoxon0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0000627HP:0000627Posterior embryotoxon0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040281 - Very frequent63
HP:0000627HP:0000627Posterior embryotoxon0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0000627HP:0000627Posterior embryotoxon0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000627HP:0000627Posterior embryotoxon0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000627HP:0000627Posterior embryotoxon0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000627HP:0000627Posterior embryotoxon0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000627HP:0000627Posterior embryotoxon0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0000627HP:0000627Posterior embryotoxon0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000627HP:0000627Posterior embryotoxon0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000627HP:0000627Posterior embryotoxon0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000627HP:0000627Posterior embryotoxon0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000627HP:0000627Posterior embryotoxon0JAG1 CL E G H1826188OMIM:617992DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE257
HP:0000627HP:0000627Posterior embryotoxon0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000627HP:0000627Posterior embryotoxon0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000627HP:0000627Posterior embryotoxon0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000627HP:0000627Posterior embryotoxon0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000627HP:0000627Posterior embryotoxon0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0000627HP:0000627Posterior embryotoxon0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2.138
HP:0000627HP:0000627Posterior embryotoxon0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0000627HP:0000627Posterior embryotoxon0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0000627HP:0000627Posterior embryotoxon0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0000627HP:0000627Posterior embryotoxon0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0000627HP:0000627Posterior embryotoxon0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0000627HP:0000627Posterior embryotoxon0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0000627HP:0000627Posterior embryotoxon0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0000627HP:0000627Posterior embryotoxon0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0000627HP:0000627Posterior embryotoxon0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0000627HP:0000627Posterior embryotoxon0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0000627HP:0000627Posterior embryotoxon0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0000627HP:0000627Posterior embryotoxon0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0000627HP:0000627Posterior embryotoxon0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0000627HP:0000627Posterior embryotoxon0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0000627HP:0000627Posterior embryotoxon0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040283 - Occasional43
HP:0000627HP:0000627Posterior embryotoxon0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040281 - Very frequent51
HP:0000627HP:0000627Posterior embryotoxon0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000627HP:0000627Posterior embryotoxon0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000627HP:0000627Posterior embryotoxon0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000627HP:0000627Posterior embryotoxon0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2HP:0040283 - Occasional13
HP:0000627HP:0000627Posterior embryotoxon0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000627HP:0000627Posterior embryotoxon0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000627HP:0000627Posterior embryotoxon0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome.32
HP:0000627HP:0000627Posterior embryotoxon0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000627HP:0000627Posterior embryotoxon0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000627HP:0000627Posterior embryotoxon0YAP1 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.