Human Phenotype Ontology 
Grandparent Node:
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Abnormal ocular adnexa morphology (HP:0030669)help
Parent Node:
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Abnormal eyelid morphology (HP:0000492)help
..Starting node
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Ankyloblepharon (HP:0009755)help
Term ID: 9755
Name: Ankyloblepharon
Synonym: Adhesion of eyelids; Ankyloblepharon filiforme adnatum; Eyelid synechiae; Eyelids stuck together
Definition: Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
Comments:
Reference: HP:0009755
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal eyelash morphology (HP:0000499) help
..expandAbnormal levator palpebrae superioris morphology (HP:3000072) help
..expandAbnormality of the palpebral fissures (HP:0008050) help
..expandAccessory eyelid (HP:0430008) help
..expandAplasia/Hypoplasia of the eyelid (HP:0011226) help
..expandBlepharitis (HP:0000498) help
..expandBlepharospasm (HP:0000643) help
..expandDermatochalasis (HP:0010750) help
..expandEctropion (HP:0000656) help
..expandEntropion (HP:0000621) help
..expandEpiblepharon (HP:0011225) help
..expandEpicanthus (HP:0000286) help
..expandErythema of the eyelids (HP:0040323) help
..expandEuryblepharon (HP:0012905) help
..expandEyelid apraxia (HP:0000658) help
..expandEyelid retraction (HP:0500043) help
..expandHeliotrope rash of eyelid (HP:0030845) help
..expandHooded eyelid (HP:0030820) help
..expandHyperpigmentation of eyelids (HP:0007406) help
..expandLagophthalmos (HP:0030001) help
..expandLipomas of eyelids (HP:0040164) help
..expandMicroblepharia (HP:0430010) help
..expandNodular changes affecting the eyelids (HP:0010732) help
..expandPalpebral edema (HP:0100540) help
..expandPalpebral thickening (HP:0030939) help
..expandSymblepharon (HP:0430007) help
..expandTelecanthus (HP:0000506) 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:0009755HP:0009755Ankyloblepharon0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0009755HP:0009755Ankyloblepharon0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0009755HP:0009755Ankyloblepharon0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009755HP:0009755Ankyloblepharon0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0009755HP:0009755Ankyloblepharon0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0009755HP:0009755Ankyloblepharon0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0009755HP:0009755Ankyloblepharon0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0009755HP:0009755Ankyloblepharon0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0009755HP:0009755Ankyloblepharon0FREM2 CL E G H34164025396OMIM:123570Cryptophthalmos, unilateral or bilateral, isolated.263
HP:0009755HP:0009755Ankyloblepharon0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040282 - Frequent99
HP:0009755HP:0009755Ankyloblepharon0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0009755HP:0009755Ankyloblepharon0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0009755HP:0009755Ankyloblepharon0RAX CL E G H3006218662OMIM:611038Microphthalmia, isolated 3.43
HP:0009755HP:0009755Ankyloblepharon0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0009755HP:0009755Ankyloblepharon0RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040281 - Very frequent69
HP:0009755HP:0009755Ankyloblepharon0RIPK4 CL E G H54101496OMIM:214350CHANDS.69
HP:0009755HP:0009755Ankyloblepharon0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0009755HP:0009755Ankyloblepharon0TP63 CL E G H862615979ORPHA:1072Ankyloblepharon filiforme adnatum-cleft palate syndromeHP:0040281 - Very frequent140
HP:0009755HP:0009755Ankyloblepharon0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0009755HP:0009755Ankyloblepharon0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0009755HP:0009755Ankyloblepharon0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86


Genes (16) :BCOR CHUK CILK1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 FREM2 IRF6 NAA10 RAX RIPK4 TP63 XPA XPC

Diseases (14) :ORPHA:568 OMIM:619339 OMIM:612651 ORPHA:910 OMIM:123570 ORPHA:1300 OMIM:119500 OMIM:611038 ORPHA:1234 ORPHA:1401 OMIM:214350 OMIM:263650 ORPHA:1072 OMIM:106260
 

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