Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye morphology (HP:0012372)help
Parent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
..expand
Phthisis bulbi (HP:0000667)help
Term ID: 667
Name: Phthisis bulbi
Synonym:
Definition: Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
Comments:
Reference: HP:0000667
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal anterior eye segment morphology (HP:0004328) help
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal sclera morphology (HP:0000591) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandAbnormality of the vasculature of the eye (HP:0008047) help
..expandAplasia/Hypoplasia affecting the eye (HP:0008056) help
..expandSpontaneous rupture of the globe (HP:0010727) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000667HP:0000667Phthisis bulbi0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0000667HP:0000667Phthisis bulbi0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0000667HP:0000667Phthisis bulbi0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0000667HP:0000667Phthisis bulbi0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0000667HP:0000667Phthisis bulbi0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12214116697603506
HP:0000667HP:0000667Phthisis bulbi0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0000667HP:0000667Phthisis bulbi0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0000667HP:0000667Phthisis bulbi0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0000667HP:0000667Phthisis bulbi0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0000667HP:0000667Phthisis bulbi0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000667HP:0000667Phthisis bulbi0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0000667HP:0000667Phthisis bulbi0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM010401750600023


Genes (12) :ATOH7 BCOR CDH11 COL18A1 HDAC8 KMT2A LRP5 NIPBL RAD21 SETD5 SMC1A SMC3

Diseases (6) :221900 300166 211380 267750 199 259770
 

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