Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the orbital region (HP:0000315)help
Parent Node:
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Abnormality of the optic nerve (HP:0000587)help
Parent Node:
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Coloboma (HP:0000589)help
..Starting node
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Optic disc coloboma (HP:0000588)help
Term ID: 588
Name: Optic disc coloboma
Synonym: Coloboma of optic nerve; Optic disk coloboma; Optic nerve coloboma
Definition: A cleft of the optic nerve that extends inferiorly.
Comments:
Reference: HP:0000588
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChorioretinal coloboma (HP:0000567) help
..expandCiliary body coloboma (HP:0020006) help
..expandIris coloboma (HP:0000612) help
..expandLens coloboma (HP:0100719) help
..expandRetinal coloboma (HP:0000480) 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:0000588HP:0000588Optic disc coloboma0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional72
HP:0000588HP:0000588Optic disc coloboma0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional123
HP:0000588HP:0000588Optic disc coloboma0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000588HP:0000588Optic disc coloboma0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000588HP:0000588Optic disc coloboma0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV27
HP:0000588HP:0000588Optic disc coloboma0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0000588HP:0000588Optic disc coloboma0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome13
HP:0000588HP:0000588Optic disc coloboma0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000588HP:0000588Optic disc coloboma0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040284 - Very rare170
HP:0000588HP:0000588Optic disc coloboma0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0000588HP:0000588Optic disc coloboma0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040282 - Frequent5
HP:0000588HP:0000588Optic disc coloboma0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000588HP:0000588Optic disc coloboma0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000588HP:0000588Optic disc coloboma0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent111
HP:0000588HP:0000588Optic disc coloboma0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000588HP:0000588Optic disc coloboma0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000588HP:0000588Optic disc coloboma0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0000588HP:0000588Optic disc coloboma0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000588HP:0000588Optic disc coloboma0PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndromeHP:0040283 - Occasional39
HP:0000588HP:0000588Optic disc coloboma0PAX6 CL E G H50808620OMIM:120430Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included194
HP:0000588HP:0000588Optic disc coloboma0PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0000588HP:0000588Optic disc coloboma0PAX6 CL E G H50808620ORPHA:35737Morning glory disc anomalyHP:0040283 - Occasional194
HP:0000588HP:0000588Optic disc coloboma0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040284 - Very rare
HP:0000588HP:0000588Optic disc coloboma0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent167
HP:0000588HP:0000588Optic disc coloboma0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000588HP:0000588Optic disc coloboma0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0000588HP:0000588Optic disc coloboma0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040283 - Occasional22
HP:0000588HP:0000588Optic disc coloboma0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies6
HP:0000588HP:0000588Optic disc coloboma0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0000588HP:0000588Optic disc coloboma0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent166
HP:0000588HP:0000588Optic disc coloboma0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2


Genes (24) :ACTB ACTG1 BCOR C2CD3 CC2D2A DDX11 DDX59 EPCAM HHAT IGBP1 INPP5E NAA10 NIPBL PAX2 PAX6 PERCC1 RPGRIP1L SALL2 SALL4 SMO SPINT2 TMEM216 TMEM67 TRRAP

Diseases (24) :ORPHA:2995 ORPHA:568 OMIM:309800 OMIM:615948 ORPHA:1454 OMIM:613398 OMIM:174300 ORPHA:92050 OMIM:600092 ORPHA:52055 OMIM:300472 OMIM:213300 OMIM:122470 OMIM:120330 ORPHA:1475 OMIM:120430 OMIM:120200 ORPHA:35737 OMIM:216820 ORPHA:959 ORPHA:1553 OMIM:270420 OMIM:608091 OMIM:618454
 

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