Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior chamber morphology (HP:0000593)help
Parent Node:
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Hypoplasia of the iris (HP:0007676)help
Parent Node:
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Ocular anterior segment dysgenesis (HP:0007700)help
..Starting node
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Rieger anomaly (HP:0000558)help
Term ID: 558
Name: Rieger anomaly
Synonym:
Definition: A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.
Comments:
Reference: HP:0000558
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAxenfeld anomaly (HP:0001492) help
..expandPeters anomaly (HP:0000659) 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:0000558HP:0000558Rieger anomaly0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000558HP:0000558Rieger anomaly0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000558HP:0000558Rieger anomaly0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000558HP:0000558Rieger anomaly0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000558HP:0000558Rieger anomaly0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0000558HP:0000558Rieger anomaly0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000558HP:0000558Rieger anomaly0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000558HP:0000558Rieger anomaly0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000558HP:0000558Rieger anomaly0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000558HP:0000558Rieger anomaly0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0000558HP:0000558Rieger anomaly0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000558HP:0000558Rieger anomaly0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51


Genes (12) :ADAMTSL1 CPLX1 CTBP1 FGFRL1 FOXC1 IGF1R LAMB2 LETM1 NSD2 PAX6 PIK3R1 PITX2

Diseases (8) :ORPHA:521445 OMIM:194190 OMIM:601631 OMIM:270450 OMIM:609049 OMIM:604229 OMIM:269880 OMIM:180500
 

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