Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the palpebral fissures (HP:0008050)

Parent Node:
Abnormal size of the palpebral fissures (HP:0200007)

..Starting node
..Narrow palpebral fissure (HP:0045025)

Term ID:

45025

Name:

Narrow palpebral fissure

Synonym:

Decreased size of palpebral fissure; Narrow eyelid opening; Narrow palpebral fissures; Small opening between the eyelids; Small palpebral fissures

Definition:

Reduction in the vertical distance between the upper and lower eyelids.

Comments:

Reference:

HP:0045025

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blepharophimosis (HP:0000581)

Long palpebral fissure (HP:0000637)

Short palpebral fissure (HP:0012745)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045025	HP:0045025	Narrow palpebral fissure	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0045025	HP:0045025	Narrow palpebral fissure	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.	25
HP:0045025	HP:0045025	Narrow palpebral fissure	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0045025	HP:0045025	Narrow palpebral fissure	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0045025	HP:0045025	Narrow palpebral fissure	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0045025	HP:0045025	Narrow palpebral fissure	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0045025	HP:0045025	Narrow palpebral fissure	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0045025	HP:0045025	Narrow palpebral fissure	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0045025	HP:0045025	Narrow palpebral fissure	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0045025	HP:0045025	Narrow palpebral fissure	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0045025	HP:0045025	Narrow palpebral fissure	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0045025	HP:0045025	Narrow palpebral fissure	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0045025	HP:0045025	Narrow palpebral fissure	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0045025	HP:0045025	Narrow palpebral fissure	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0045025	HP:0045025	Narrow palpebral fissure	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0045025	HP:0045025	Narrow palpebral fissure	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0045025	HP:0045025	Narrow palpebral fissure	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0045025	HP:0045025	Narrow palpebral fissure	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040284 - Very rare	11
HP:0045025	HP:0045025	Narrow palpebral fissure	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0045025	HP:0045025	Narrow palpebral fissure	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0045025	HP:0045025	Narrow palpebral fissure	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0045025	HP:0045025	Narrow palpebral fissure	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0045025	HP:0045025	Narrow palpebral fissure	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0045025	HP:0045025	Narrow palpebral fissure	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0045025	HP:0045025	Narrow palpebral fissure	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0045025	HP:0045025	Narrow palpebral fissure	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0045025	HP:0045025	Narrow palpebral fissure	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0045025	HP:0045025	Narrow palpebral fissure	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0045025	HP:0045025	Narrow palpebral fissure	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0045025	HP:0045025	Narrow palpebral fissure	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0045025	HP:0045025	Narrow palpebral fissure	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0045025	HP:0045025	Narrow palpebral fissure	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0045025	HP:0045025	Narrow palpebral fissure	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0045025	HP:0045025	Narrow palpebral fissure	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0045025	HP:0045025	Narrow palpebral fissure	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0045025	HP:0045025	Narrow palpebral fissure	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0045025	HP:0045025	Narrow palpebral fissure	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0045025	HP:0045025	Narrow palpebral fissure	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0045025	HP:0045025	Narrow palpebral fissure	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0045025	HP:0045025	Narrow palpebral fissure	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0045025	HP:0045025	Narrow palpebral fissure	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent	12
HP:0045025	HP:0045025	Narrow palpebral fissure	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0045025	HP:0045025	Narrow palpebral fissure	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0045025	HP:0045025	Narrow palpebral fissure	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0045025	HP:0045025	Narrow palpebral fissure	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0045025	HP:0045025	Narrow palpebral fissure	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0045025	HP:0045025	Narrow palpebral fissure	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0045025	HP:0045025	Narrow palpebral fissure	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0045025	HP:0045025	Narrow palpebral fissure	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0045025	HP:0045025	Narrow palpebral fissure	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0045025	HP:0045025	Narrow palpebral fissure	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0045025	HP:0045025	Narrow palpebral fissure	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.	2
HP:0045025	HP:0045025	Narrow palpebral fissure	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0045025	HP:0045025	Narrow palpebral fissure	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0045025	HP:0045025	Narrow palpebral fissure	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC

Genes (57) :ADNP ARID2 B9D2 BICRA CACNA1G CDC42BPB CEP55 DDR2 DDX6 DGCR2 DGCR6 DGCR8 DLK1 DNMT3A DOCK6 EDEM3 EFEMP2 ESS2 GATAD2B GPC6 HDAC4 HSPG2 INTS1 KCTD1 KDM4B KMT2A KPTN LARP7 MAPK8IP3 MAPKAPK5 MED13 MEG3 MYCN PCGF2 PCNT PDE4D PGM3 PHF6 POLR3A PYCR1 RBMX RECQL4 RPL10 RTL1 SLC6A17 SMAD4 SMARCA2 SPEN SPOP SRCAP TBL1XR1 TBX1 TENM3 TRIP12 TRMT1 WDR35 ZMYM2

Diseases (57) :OMIM:615873 OMIM:617808 OMIM:614175 OMIM:619325 OMIM:618087 OMIM:619841 OMIM:236500 OMIM:618175 OMIM:618653 OMIM:192430 ORPHA:254528 ORPHA:404443 OMIM:615879 OMIM:614219 OMIM:619493 OMIM:614437 OMIM:615074 ORPHA:363686 OMIM:258315 OMIM:600430 OMIM:255800 OMIM:618571 OMIM:181270 OMIM:619320 OMIM:605130 ORPHA:397612 ORPHA:319671 OMIM:618443 OMIM:619869 OMIM:618009 OMIM:164280 OMIM:618371 ORPHA:2637 ORPHA:439822 ORPHA:443811 OMIM:301900 OMIM:264090 OMIM:614438 OMIM:300238 OMIM:266280 OMIM:268400 ORPHA:459070 OMIM:616269 ORPHA:457212 OMIM:139210 OMIM:619293 OMIM:601358 OMIM:619312 OMIM:618828 OMIM:619595 ORPHA:487825 OMIM:602342 OMIM:615145 OMIM:617752 OMIM:618302 OMIM:613610 OMIM:619522

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

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