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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Lagophthalmos (HP:0030001)help
Term ID: 30001
Name: Lagophthalmos
Synonym: Eyelids stay open; Inability to close the eyelids
Definition: A condition in which the eyelids do not close to cover the eye completely.
Comments:
Reference: HP:0030001
Genes and Diseases:
 
       Child Nodes:
........expandNocturnal lagophthalmos (HP:0030002) help
........expandParalytic lagophthalmos (HP:0030003) help
........expandCicatricial lagophthalmos (HP:0030004) help

 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
..expandAnkyloblepharon (HP:0009755) 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
..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:0030001HP:0030001Lagophthalmos0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D37
HP:0030001HP:0030001Lagophthalmos0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0030001HP:0030001Lagophthalmos0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0030001HP:0030001Lagophthalmos0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0030001HP:0030001Lagophthalmos0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0030001HP:0030001Lagophthalmos0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040284 - Very rare138
HP:0030001HP:0030001Lagophthalmos0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0030001HP:0030001Lagophthalmos0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0030001HP:0030001Lagophthalmos0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0030001HP:0030003Paralytic lagophthalmos1 CL E G H
HP:0030001HP:0030002Nocturnal lagophthalmos1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0030001HP:0030004Cicatricial lagophthalmos1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0030001HP:0030002Nocturnal lagophthalmos1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83


Genes (9) :ECEL1 HOXB1 LMNA MYMK NGLY1 POLR3A PRR12 RIPK4 ZMPSTE24

Diseases (8) :OMIM:615065 OMIM:614744 ORPHA:740 OMIM:254940 ORPHA:404454 ORPHA:3455 OMIM:619539 OMIM:263650
 

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