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
..Long palpebral fissure (HP:0000637)

Term ID:

637

Name:

Long palpebral fissure

Synonym:

Broad opening between the eyelids; Broad palpebral fissure; Long opening between the eyelids; Long palpebral fissures; Wide opening between the eyelids; Wide palpebral fissure; Wide palpebral fissures

Definition:

Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.

Comments:

Reference:

HP:0000637

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blepharophimosis (HP:0000581)

Narrow palpebral fissure (HP:0045025)

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:0000637	HP:0000637	Long palpebral fissure	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0000637	HP:0000637	Long palpebral fissure	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000637	HP:0000637	Long palpebral fissure	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0000637	HP:0000637	Long palpebral fissure	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.	123
HP:0000637	HP:0000637	Long palpebral fissure	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0000637	HP:0000637	Long palpebral fissure	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000637	HP:0000637	Long palpebral fissure	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000637	HP:0000637	Long palpebral fissure	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0000637	HP:0000637	Long palpebral fissure	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0000637	HP:0000637	Long palpebral fissure	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related	HP:0040283 - Occasional	166
HP:0000637	HP:0000637	Long palpebral fissure	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0000637	HP:0000637	Long palpebral fissure	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0000637	HP:0000637	Long palpebral fissure	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0000637	HP:0000637	Long palpebral fissure	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0000637	HP:0000637	Long palpebral fissure	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0000637	HP:0000637	Long palpebral fissure	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0000637	HP:0000637	Long palpebral fissure	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000637	HP:0000637	Long palpebral fissure	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000637	HP:0000637	Long palpebral fissure	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0000637	HP:0000637	Long palpebral fissure	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000637	HP:0000637	Long palpebral fissure	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0000637	HP:0000637	Long palpebral fissure	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000637	HP:0000637	Long palpebral fissure	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0000637	HP:0000637	Long palpebral fissure	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9	.	13
HP:0000637	HP:0000637	Long palpebral fissure	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000637	HP:0000637	Long 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:0000637	HP:0000637	Long palpebral fissure	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000637	HP:0000637	Long palpebral fissure	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000637	HP:0000637	Long palpebral fissure	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000637	HP:0000637	Long palpebral fissure	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000637	HP:0000637	Long palpebral fissure	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040281 - Very frequent	8
HP:0000637	HP:0000637	Long palpebral fissure	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040281 - Very frequent	8
HP:0000637	HP:0000637	Long palpebral fissure	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000637	HP:0000637	Long palpebral fissure	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000637	HP:0000637	Long palpebral fissure	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000637	HP:0000637	Long palpebral fissure	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000637	HP:0000637	Long palpebral fissure	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000637	HP:0000637	Long palpebral fissure	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0000637	HP:0000637	Long palpebral fissure	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000637	HP:0000637	Long palpebral fissure	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000637	HP:0000637	Long palpebral fissure	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0000637	HP:0000637	Long palpebral fissure	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0000637	HP:0000637	Long palpebral fissure	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0000637	HP:0000637	Long palpebral fissure	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0000637	HP:0000637	Long palpebral fissure	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000637	HP:0000637	Long palpebral fissure	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000637	HP:0000637	Long palpebral fissure	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0000637	HP:0000637	Long palpebral fissure	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	8
HP:0000637	HP:0000637	Long palpebral fissure	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	20
HP:0000637	HP:0000637	Long palpebral fissure	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	36
HP:0000637	HP:0000637	Long palpebral fissure	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000637	HP:0000637	Long palpebral fissure	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	84
HP:0000637	HP:0000637	Long palpebral fissure	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000637	HP:0000637	Long palpebral fissure	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	57
HP:0000637	HP:0000637	Long palpebral fissure	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	6
HP:0000637	HP:0000637	Long palpebral fissure	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000637	HP:0000637	Long palpebral fissure	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0000637	HP:0000637	Long palpebral fissure	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000637	HP:0000637	Long palpebral fissure	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0000637	HP:0000637	Long palpebral fissure	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0000637	HP:0000637	Long palpebral fissure	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0000637	HP:0000637	Long palpebral fissure	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0000637	HP:0000637	Long palpebral fissure	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0000637	HP:0000637	Long palpebral fissure	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0000637	HP:0000637	Long palpebral fissure	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000637	HP:0000637	Long palpebral fissure	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000637	HP:0000637	Long palpebral fissure	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000637	HP:0000637	Long palpebral fissure	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000637	HP:0000637	Long palpebral fissure	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0000637	HP:0000637	Long palpebral fissure	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000637	HP:0000637	Long palpebral fissure	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0000637	HP:0000637	Long palpebral fissure	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0000637	HP:0000637	Long palpebral fissure	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98

Genes (58) :ACTB ACTG1 ADNP AFF3 ANKRD11 AP3B2 ARX BMP1 BRAF CAMK2G CCNK CLP1 DDB1 DPH5 DVL1 DVL3 EIF5A FIBP FTSJ1 FZD2 GATAD2B GNB2 H4C5 HDAC4 HNRNPK INPPL1 IPO8 KDM6A KMT2D KRAS LMBRD2 LMNB1 MAP2K1 MAP2K2 NXN OTUD6B PCLO PDE4D PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3R2 PRR12 PURA RAC1 RNU4ATAC ROR2 SPEN SPOP SPTBN1 TBL1XR1 TGFB3 WAC WNT5A

Diseases (57) :ORPHA:2995 OMIM:243310 OMIM:614583 ORPHA:404448 OMIM:619297 OMIM:148050 ORPHA:2332 OMIM:617276 OMIM:300419 OMIM:614856 ORPHA:1340 OMIM:618522 OMIM:618147 ORPHA:411493 OMIM:615803 OMIM:619426 OMIM:620070 ORPHA:3107 OMIM:180700 OMIM:619376 ORPHA:500095 OMIM:309549 ORPHA:363686 OMIM:619503 OMIM:619950 OMIM:619797 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:258480 OMIM:619472 OMIM:147920 OMIM:300867 OMIM:619694 OMIM:619179 ORPHA:1507 ORPHA:505237 OMIM:617452 OMIM:608027 ORPHA:439822 ORPHA:247262 OMIM:614749 OMIM:239300 OMIM:603387 OMIM:619539 OMIM:616158 ORPHA:438216 OMIM:617751 OMIM:616651 ORPHA:353298 OMIM:268310 OMIM:619312 OMIM:618829 OMIM:619475 OMIM:616944 OMIM:615582 ORPHA:466950

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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