Human Phenotype Ontology 
Grandparent Node:
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Abnormality iris morphology (HP:0000525)help
Parent Node:
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Abnormal pupil morphology (HP:0000615)help
..Starting node
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Persistent pupillary membrane (HP:0009917)help
Term ID: 9917
Name: Persistent pupillary membrane
Synonym:
Definition: The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.
Comments:
Reference: HP:0009917
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal pupil shape (HP:0025309) help
..expandAnisocoria (HP:0009916) help
..expandEctopia pupillae (HP:0009918) help
..expandLeukocoria (HP:0000555) help
..expandMicrocoria (HP:0025492) help
..expandPolycoria (HP:0011500) 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:0009917HP:0009917Persistent pupillary membrane0ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillaeHP:0040283 - Occasional84
HP:0009917HP:0009917Persistent pupillary membrane0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0009917HP:0009917Persistent pupillary membrane0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0009917HP:0009917Persistent pupillary membrane0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0009917HP:0009917Persistent pupillary membrane0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 8HP:0040283 - Occasional5
HP:0009917HP:0009917Persistent pupillary membrane0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0009917HP:0009917Persistent pupillary membrane0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0009917HP:0009917Persistent pupillary membrane0HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0009917HP:0009917Persistent pupillary membrane0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0009917HP:0009917Persistent pupillary membrane0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221


Genes (9) :ADAMTSL4 ATOH7 COL18A1 CPAMD8 FZD4 GJA1 HRAS NDP POMT2

Diseases (8) :OMIM:225200 ORPHA:91495 OMIM:221900 OMIM:267750 OMIM:617319 OMIM:257850 ORPHA:79414 OMIM:613150
 

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