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
..Blepharophimosis (HP:0000581)

Term ID:

581

Name:

Blepharophimosis

Synonym:

Decreased width of palpebral fissure; Narrow opening between the eyelids

Definition:

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.

Comments:

Reference:

HP:0000581

Genes and Diseases:

Child Nodes:

........

Palpebral fissure narrowing on adduction (HP:0000661)

........

Unilateral narrow palpebral fissure (HP:0007946)

Sister Nodes:

Long palpebral fissure (HP:0000637)

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:0000581	HP:0000581	Blepharophimosis	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0000581	HP:0000581	Blepharophimosis	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000581	HP:0000581	Blepharophimosis	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0000581	HP:0000581	Blepharophimosis	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000581	HP:0000581	Blepharophimosis	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000581	HP:0000581	Blepharophimosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0000581	HP:0000581	Blepharophimosis	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000581	HP:0000581	Blepharophimosis	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0000581	HP:0000581	Blepharophimosis	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0000581	HP:0000581	Blepharophimosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000581	HP:0000581	Blepharophimosis	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	HP:0040283 - Occasional	146
HP:0000581	HP:0000581	Blepharophimosis	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000581	HP:0000581	Blepharophimosis	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0000581	HP:0000581	Blepharophimosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0000581	HP:0000581	Blepharophimosis	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0000581	HP:0000581	Blepharophimosis	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000581	HP:0000581	Blepharophimosis	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0000581	HP:0000581	Blepharophimosis	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0000581	HP:0000581	Blepharophimosis	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000581	HP:0000581	Blepharophimosis	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000581	HP:0000581	Blepharophimosis	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0000581	HP:0000581	Blepharophimosis	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000581	HP:0000581	Blepharophimosis	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0000581	HP:0000581	Blepharophimosis	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000581	HP:0000581	Blepharophimosis	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000581	HP:0000581	Blepharophimosis	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000581	HP:0000581	Blepharophimosis	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000581	HP:0000581	Blepharophimosis	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000581	HP:0000581	Blepharophimosis	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000581	HP:0000581	Blepharophimosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0000581	HP:0000581	Blepharophimosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000581	HP:0000581	Blepharophimosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000581	HP:0000581	Blepharophimosis	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000581	HP:0000581	Blepharophimosis	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0000581	HP:0000581	Blepharophimosis	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0000581	HP:0000581	Blepharophimosis	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000581	HP:0000581	Blepharophimosis	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000581	HP:0000581	Blepharophimosis	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0000581	HP:0000581	Blepharophimosis	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0000581	HP:0000581	Blepharophimosis	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000581	HP:0000581	Blepharophimosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0000581	HP:0000581	Blepharophimosis	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000581	HP:0000581	Blepharophimosis	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040281 - Very frequent	92
HP:0000581	HP:0000581	Blepharophimosis	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0000581	HP:0000581	Blepharophimosis	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0000581	HP:0000581	Blepharophimosis	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000581	HP:0000581	Blepharophimosis	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0000581	HP:0000581	Blepharophimosis	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0000581	HP:0000581	Blepharophimosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000581	HP:0000581	Blepharophimosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000581	HP:0000581	Blepharophimosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000581	HP:0000581	Blepharophimosis	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000581	HP:0000581	Blepharophimosis	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0000581	HP:0000581	Blepharophimosis	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000581	HP:0000581	Blepharophimosis	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0000581	HP:0000581	Blepharophimosis	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000581	HP:0000581	Blepharophimosis	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000581	HP:0000581	Blepharophimosis	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000581	HP:0000581	Blepharophimosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000581	HP:0000581	Blepharophimosis	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000581	HP:0000581	Blepharophimosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000581	HP:0000581	Blepharophimosis	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000581	HP:0000581	Blepharophimosis	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000581	HP:0000581	Blepharophimosis	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000581	HP:0000581	Blepharophimosis	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0000581	HP:0000581	Blepharophimosis	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0000581	HP:0000581	Blepharophimosis	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0000581	HP:0000581	Blepharophimosis	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000581	HP:0000581	Blepharophimosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0000581	HP:0000581	Blepharophimosis	0	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness		63
HP:0000581	HP:0000581	Blepharophimosis	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000581	HP:0000581	Blepharophimosis	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional	4
HP:0000581	HP:0000581	Blepharophimosis	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0000581	HP:0000581	Blepharophimosis	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000581	HP:0000581	Blepharophimosis	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0000581	HP:0000581	Blepharophimosis	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0000581	HP:0000581	Blepharophimosis	0	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type	HP:0040282 - Frequent	228
HP:0000581	HP:0000581	Blepharophimosis	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0000581	HP:0000581	Blepharophimosis	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000581	HP:0000581	Blepharophimosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000581	HP:0000581	Blepharophimosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000581	HP:0000581	Blepharophimosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000581	HP:0000581	Blepharophimosis	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0000581	HP:0000581	Blepharophimosis	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0000581	HP:0000581	Blepharophimosis	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000581	HP:0000581	Blepharophimosis	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000581	HP:0000581	Blepharophimosis	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000581	HP:0000581	Blepharophimosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000581	HP:0000581	Blepharophimosis	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0000581	HP:0000581	Blepharophimosis	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000581	HP:0000581	Blepharophimosis	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional	84
HP:0000581	HP:0000581	Blepharophimosis	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0000581	HP:0000581	Blepharophimosis	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0000581	HP:0000581	Blepharophimosis	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000581	HP:0000581	Blepharophimosis	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0000581	HP:0000581	Blepharophimosis	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0000581	HP:0000581	Blepharophimosis	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0000581	HP:0000581	Blepharophimosis	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0000581	HP:0000581	Blepharophimosis	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0000581	HP:0000581	Blepharophimosis	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040282 - Frequent	29
HP:0000581	HP:0000581	Blepharophimosis	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0000581	HP:0000581	Blepharophimosis	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0000581	HP:0000581	Blepharophimosis	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000581	HP:0000581	Blepharophimosis	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000581	HP:0000581	Blepharophimosis	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000581	HP:0000581	Blepharophimosis	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000581	HP:0000581	Blepharophimosis	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0000581	HP:0000581	Blepharophimosis	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000581	HP:0000581	Blepharophimosis	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000581	HP:0000581	Blepharophimosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000581	HP:0000581	Blepharophimosis	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000581	HP:0000581	Blepharophimosis	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000581	HP:0000581	Blepharophimosis	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000581	HP:0000581	Blepharophimosis	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0000581	HP:0000581	Blepharophimosis	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000581	HP:0000581	Blepharophimosis	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000581	HP:0000581	Blepharophimosis	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0000581	HP:0000581	Blepharophimosis	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0000581	HP:0000581	Blepharophimosis	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000581	HP:0000581	Blepharophimosis	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0000581	HP:0000581	Blepharophimosis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0000581	HP:0000581	Blepharophimosis	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0000581	HP:0000581	Blepharophimosis	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0000581	HP:0000581	Blepharophimosis	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0000581	HP:0000581	Blepharophimosis	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040282 - Frequent	504
HP:0000581	HP:0000581	Blepharophimosis	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000581	HP:0000581	Blepharophimosis	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0000581	HP:0000581	Blepharophimosis	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0000581	HP:0000581	Blepharophimosis	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000581	HP:0000581	Blepharophimosis	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.	22
HP:0000581	HP:0000581	Blepharophimosis	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15
HP:0000581	HP:0000581	Blepharophimosis	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000581	HP:0000581	Blepharophimosis	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000581	HP:0000581	Blepharophimosis	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0000581	HP:0000581	Blepharophimosis	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000581	HP:0000581	Blepharophimosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0000581	HP:0000581	Blepharophimosis	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000581	HP:0000581	Blepharophimosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000581	HP:0000581	Blepharophimosis	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0000581	HP:0000581	Blepharophimosis	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0000581	HP:0000581	Blepharophimosis	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0000581	HP:0000581	Blepharophimosis	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000581	HP:0000581	Blepharophimosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000581	HP:0000581	Blepharophimosis	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0000581	HP:0000581	Blepharophimosis	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000581	HP:0000581	Blepharophimosis	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000581	HP:0000581	Blepharophimosis	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0000581	HP:0000581	Blepharophimosis	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000581	HP:0000581	Blepharophimosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000581	HP:0000581	Blepharophimosis	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000581	HP:0000581	Blepharophimosis	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000581	HP:0000581	Blepharophimosis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000581	HP:0007946	Unilateral narrow palpebral fissure	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0000581	HP:0000661	Palpebral fissure narrowing on adduction	1	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness	.	63
HP:0000581	HP:0007946	Unilateral narrow palpebral fissure	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000581	HP:0000661	Palpebral fissure narrowing on adduction	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000581	HP:0007946	Unilateral narrow palpebral fissure	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000581	HP:0007946	Unilateral narrow palpebral fissure	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000581	HP:0007946	Unilateral narrow palpebral fissure	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (130) :ALG14 ALX4 ANK1 ATP6V1A ATR BAZ1B BCL7B BCOR BCR BRCA1 BRPF1 BUD23 CDK13 CEP152 CEP57 CHN1 CLIP2 COL25A1 COLEC10 COLEC11 CREBBP CRKL CUL4B DACT1 DCHS1 DDR2 DGCR2 DGCR6 DGCR8 DLK1 DNAJC30 DNMT3A EIF4H ELN EP300 ERCC1 ERCC6 ESS2 FANCD2 FAT4 FKBP6 FOXG1 FOXL2 FOXP1 GATAD2B GJA1 GPC6 GPKOW GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HHAT HNRNPH1 HSPG2 HUWE1 IRX5 KANSL1 KAT6B KCNJ2 KCTD1 KMT2A KRAS LIG4 LIMK1 MAFB MAPK1 MAPRE2 MASP1 MCTP2 MECP2 MED12 MEG3 METTL27 MLXIPL MOGS MUSK MYCN MYH3 MYL11 NCF1 NFIB NSUN2 ODC1 ORC1 PAX3 PHF6 PIEZO2 PRIM1 RAB18 RBMX RECQL4 RERE RFC2 RHOA RIPK4 RTL1 SALL1 SALL4 SCARF2 SEPTIN9 SETD5 SF3B2 SLC2A10 SLC6A17 SLX4 SMAD4 SMARCA2 SMO SMOC1 SOX9 STAC3 STRA6 STX1A TBC1D2B TBL1XR1 TBL2 TBX1 TBX15 TLK2 TMEM270 TP63 TUBB TXNL4A UBE3B UGDH VPS37D WDR35 ZFHX4 ZMPSTE24

Diseases (128) :OMIM:619036 OMIM:613451 ORPHA:251066 OMIM:617403 OMIM:210600 ORPHA:904 OMIM:300166 ORPHA:261330 OMIM:617883 OMIM:617333 OMIM:617360 OMIM:613823 OMIM:614114 ORPHA:233 ORPHA:91411 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:618332 ORPHA:85293 ORPHA:857 ORPHA:314679 OMIM:601390 OMIM:618175 OMIM:192430 ORPHA:96334 OMIM:615879 OMIM:194050 OMIM:618333 OMIM:610758 OMIM:214150 OMIM:227646 OMIM:616006 OMIM:615546 ORPHA:261144 OMIM:110100 ORPHA:572333 ORPHA:391372 OMIM:615074 OMIM:164200 OMIM:258315 ORPHA:2570 OMIM:600430 ORPHA:1422 OMIM:620083 ORPHA:800 OMIM:255800 OMIM:309590 OMIM:611174 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:3047 OMIM:603736 OMIM:170390 OMIM:181270 OMIM:605130 ORPHA:3339 ORPHA:235 OMIM:617041 OMIM:616734 OMIM:257920 ORPHA:1596 ORPHA:1762 ORPHA:293707 OMIM:300895 OMIM:606056 OMIM:208150 OMIM:164280 OMIM:193700 OMIM:619110 OMIM:618286 OMIM:611091 OMIM:619075 ORPHA:544488 OMIM:224690 ORPHA:1529 ORPHA:896 OMIM:193500 OMIM:148820 OMIM:301900 ORPHA:127 OMIM:108145 ORPHA:2461 OMIM:248700 OMIM:620005 OMIM:614222 OMIM:300238 OMIM:266280 OMIM:616975 ORPHA:494344 OMIM:618727 OMIM:263650 OMIM:607323 OMIM:600920 OMIM:162100 ORPHA:404440 OMIM:164210 OMIM:208050 ORPHA:3342 OMIM:616269 OMIM:613951 OMIM:139210 ORPHA:2588 OMIM:619293 ORPHA:2728 ORPHA:3051 OMIM:601358 OMIM:601707 ORPHA:1106 OMIM:206920 OMIM:114290 OMIM:255995 OMIM:601186 ORPHA:397973 OMIM:602342 OMIM:188400 OMIM:260660 ORPHA:93333 OMIM:618050 OMIM:604292 OMIM:156610 OMIM:608572 OMIM:244450 ORPHA:2707 OMIM:618792 OMIM:613610 OMIM:275210

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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