Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Grandparent Node:
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Hamartoma of the eye (HP:0010568)help
Parent Node:
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Hemangioblastoma (HP:0010797)help
Parent Node:
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Hemangioma (HP:0001028)help
Parent Node:
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Retinal hamartoma (HP:0009594)help
..Starting node
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Retinal capillary hemangioma (HP:0009711)help
Term ID: 9711
Name: Retinal capillary hemangioma
Synonym: Retinal hemangioblastoma
Definition: A benign vascular tumor of the retina without any neoplastic characteristics.
Comments:
Reference: HP:0009711
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCombined hamartoma of the retinal pigment epithelium and retina (HP:0030510) help
..expandRetinal astrocytic hamartoma (HP:0012778) help
..expandRetinal cavernous hemangioma (HP:0030508) help
..expandRetinal racemose hemangioma (HP:0030509) 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:0009711HP:0009711Retinal capillary hemangioma0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0009711HP:0009711Retinal capillary hemangioma0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0009711HP:0009711Retinal capillary hemangioma0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0009711HP:0009711Retinal capillary hemangioma0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0009711HP:0009711Retinal capillary hemangioma0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0009711HP:0009711Retinal capillary hemangioma0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0009711HP:0009711Retinal capillary hemangioma0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0009711HP:0009711Retinal capillary hemangioma0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0009711HP:0009711Retinal capillary hemangioma0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0009711HP:0009711Retinal capillary hemangioma0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0009711HP:0009711Retinal capillary hemangioma0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0009711HP:0009711Retinal capillary hemangioma0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0009711HP:0009711Retinal capillary hemangioma0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0009711HP:0009711Retinal capillary hemangioma0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0009711HP:0009711Retinal capillary hemangioma0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0009711HP:0009711Retinal capillary hemangioma0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0009711HP:0009711Retinal capillary hemangioma0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0009711HP:0009711Retinal capillary hemangioma0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490
HP:0009711HP:0009711Retinal capillary hemangioma0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490


Genes (16) :CCND1 DLST FH KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL

Diseases (3) :ORPHA:892 OMIM:193300 ORPHA:29072
 

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