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:
Abnormal eye physiology (HP:0012373)

Parent Node:
Ptosis (HP:0000508)

..Starting node
..Bilateral ptosis (HP:0001488)

Term ID:

1488

Name:

Bilateral ptosis

Synonym:

Drooping of both upper eyelids

Definition:

Comments:

Reference:

HP:0001488

Genes and Diseases:

Child Nodes:

........

Congenital bilateral ptosis (HP:0007911)

Sister Nodes:

Congenital ptosis (HP:0007970)

Horner syndrome (HP:0002277)

Progressive ptosis (HP:0007838)

Unilateral ptosis (HP:0007687)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001488	HP:0001488	Bilateral ptosis	0	ABCC8 CL E G H	6833	99885				ORPHA	1	661	59	600509
HP:0001488	HP:0001488	Bilateral ptosis	0	ABCC8 CL E G H	6833	99886				ORPHA	1	661	59	600509
HP:0001488	HP:0001488	Bilateral ptosis	0	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	4	303	602981
HP:0001488	HP:0001488	Bilateral ptosis	0	COL4A3BP CL E G H	10087	616351	Mental retardation, autosomal dominant 34	616351	C4225156	OMIM	1	8	2205	604677
HP:0001488	HP:0001488	Bilateral ptosis	0	COLQ CL E G H	8292	98915				ORPHA	1	70	2226	603033
HP:0001488	HP:0001488	Bilateral ptosis	0	DGUOK CL E G H	1716	329314				ORPHA	1	64	2858	601465
HP:0001488	HP:0001488	Bilateral ptosis	0	GCK CL E G H	2645	99885				ORPHA	1	848	4195	138079
HP:0001488	HP:0001488	Bilateral ptosis	0	HYMAI CL E G H	57061	99886				ORPHA	1		5326	606546
HP:0001488	HP:0001488	Bilateral ptosis	0	INS CL E G H	3630	99885				ORPHA	1	83	6081	176730
HP:0001488	HP:0001488	Bilateral ptosis	0	KCNJ11 CL E G H	3767	99886				ORPHA	1	187	6257	600937
HP:0001488	HP:0001488	Bilateral ptosis	0	KCNJ11 CL E G H	3767	99885				ORPHA	1	187	6257	600937
HP:0001488	HP:0001488	Bilateral ptosis	0	KIF21A CL E G H	55605	135700	Fibrosis of extraocular muscles, congenital, 1	135700	C1851102	OMIM	1	17	19349	608283
HP:0001488	HP:0001488	Bilateral ptosis	0	LAMB2 CL E G H	3913	98915				ORPHA	1	127	6487	150325
HP:0001488	HP:0001488	Bilateral ptosis	0	PDX1 CL E G H	3651	99885				ORPHA	1	33	6107	600733
HP:0001488	HP:0001488	Bilateral ptosis	0	PHOX2A CL E G H	401	602078	Fibrosis of extraocular muscles, congenital, 2	602078	C1865915	OMIM	1	5	691	602753
HP:0001488	HP:0001488	Bilateral ptosis	0	PLAGL1 CL E G H	5325	99886				ORPHA	1	2	9046	603044
HP:0001488	HP:0001488	Bilateral ptosis	0	RAD21 CL E G H	5885	611376	Mungan syndrome	611376	C1969653	OMIM	1	13	9811	606462
HP:0001488	HP:0001488	Bilateral ptosis	0	RNASEH1 CL E G H	246243	329336				ORPHA	1	4	18466	604123
HP:0001488	HP:0001488	Bilateral ptosis	0	RRM2B CL E G H	50484	329336				ORPHA	1	43	17296	604712
HP:0001488	HP:0001488	Bilateral ptosis	0	STAT3 CL E G H	6774	99885				ORPHA	1	155	11364	102582
HP:0001488	HP:0001488	Bilateral ptosis	0	TUBB3 CL E G H	10381	300570				ORPHA	1	26	20772	602661
HP:0001488	HP:0001488	Bilateral ptosis	0	ZFP57 CL E G H	346171	99886				ORPHA	1	15	18791	612192
HP:0001488	HP:0001488	Bilateral ptosis	1	ABCC8 CL E G H	6833	99885				ORPHA	1	661	59	600509
HP:0001488	HP:0001488	Bilateral ptosis	1	ABCC8 CL E G H	6833	99886				ORPHA	1	661	59	600509
HP:0001488	HP:0001488	Bilateral ptosis	1	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	4	303	602981
HP:0001488	HP:0001488	Bilateral ptosis	1	COL4A3BP CL E G H	10087	616351	Mental retardation, autosomal dominant 34	616351	C4225156	OMIM	1	8	2205	604677
HP:0001488	HP:0001488	Bilateral ptosis	1	COLQ CL E G H	8292	98915				ORPHA	1	70	2226	603033
HP:0001488	HP:0001488	Bilateral ptosis	1	DGUOK CL E G H	1716	329314				ORPHA	1	64	2858	601465
HP:0001488	HP:0001488	Bilateral ptosis	1	GCK CL E G H	2645	99885				ORPHA	1	848	4195	138079
HP:0001488	HP:0001488	Bilateral ptosis	1	HYMAI CL E G H	57061	99886				ORPHA	1		5326	606546
HP:0001488	HP:0001488	Bilateral ptosis	1	INS CL E G H	3630	99885				ORPHA	1	83	6081	176730
HP:0001488	HP:0001488	Bilateral ptosis	1	KCNJ11 CL E G H	3767	99885				ORPHA	1	187	6257	600937
HP:0001488	HP:0001488	Bilateral ptosis	1	KCNJ11 CL E G H	3767	99886				ORPHA	1	187	6257	600937
HP:0001488	HP:0001488	Bilateral ptosis	1	KIF21A CL E G H	55605	135700	Fibrosis of extraocular muscles, congenital, 1	135700	C1851102	OMIM	1	17	19349	608283
HP:0001488	HP:0001488	Bilateral ptosis	1	LAMB2 CL E G H	3913	98915				ORPHA	1	127	6487	150325
HP:0001488	HP:0001488	Bilateral ptosis	1	PDX1 CL E G H	3651	99885				ORPHA	1	33	6107	600733
HP:0001488	HP:0001488	Bilateral ptosis	1	PHOX2A CL E G H	401	602078	Fibrosis of extraocular muscles, congenital, 2	602078	C1865915	OMIM	1	5	691	602753
HP:0001488	HP:0001488	Bilateral ptosis	1	PLAGL1 CL E G H	5325	99886				ORPHA	1	2	9046	603044
HP:0001488	HP:0001488	Bilateral ptosis	1	RAD21 CL E G H	5885	611376	Mungan syndrome	611376	C1969653	OMIM	1	13	9811	606462
HP:0001488	HP:0001488	Bilateral ptosis	1	RNASEH1 CL E G H	246243	329336				ORPHA	1	4	18466	604123
HP:0001488	HP:0001488	Bilateral ptosis	1	RRM2B CL E G H	50484	329336				ORPHA	1	43	17296	604712
HP:0001488	HP:0001488	Bilateral ptosis	1	STAT3 CL E G H	6774	99885				ORPHA	1	155	11364	102582
HP:0001488	HP:0001488	Bilateral ptosis	1	TUBB3 CL E G H	10381	300570				ORPHA	1	26	20772	602661
HP:0001488	HP:0001488	Bilateral ptosis	1	ZFP57 CL E G H	346171	99886				ORPHA	1	15	18791	612192
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001488	HP:0001488	Bilateral ptosis	0	ABCC8 CL E G H	6833	79134				ORPHA	0	661	59	600509
HP:0001488	HP:0001488	Bilateral ptosis	0	KCNJ11 CL E G H	3767	79134				ORPHA	0	187	6257	600937
HP:0001488	HP:0001488	Bilateral ptosis	0	PAH CL E G H	5053	2209	Exsudative retinopathy familial, autosomal recessive			ORPHA	0	980	8582	612349
HP:0001488	HP:0001488	Bilateral ptosis	0	PLEC CL E G H	5339	254361				ORPHA	0	104	9069	601282
HP:0001488	HP:0001488	Bilateral ptosis	0	TBC1D24 CL E G H	57465	79500				ORPHA	0	56	29203	613577
HP:0001488	HP:0001488	Bilateral ptosis	0	TK2 CL E G H	7084	254875				ORPHA	0	60	11831	188250
HP:0001488	HP:0001488	Bilateral ptosis	1	ABCC8 CL E G H	6833	79134				ORPHA	0	661	59	600509
HP:0001488	HP:0001488	Bilateral ptosis	1	KCNJ11 CL E G H	3767	79134				ORPHA	0	187	6257	600937
HP:0001488	HP:0001488	Bilateral ptosis	1	PAH CL E G H	5053	2209	Exsudative retinopathy familial, autosomal recessive			ORPHA	0	980	8582	612349
HP:0001488	HP:0001488	Bilateral ptosis	1	PLEC CL E G H	5339	254361				ORPHA	0	104	9069	601282
HP:0001488	HP:0001488	Bilateral ptosis	1	TBC1D24 CL E G H	57465	79500				ORPHA	0	56	29203	613577
HP:0001488	HP:0001488	Bilateral ptosis	1	TK2 CL E G H	7084	254875				ORPHA	0	60	11831	188250

Genes (25) :ABCC8 AEBP1 COL4A3BP COLQ DGUOK GCK HYMAI IGF1 INS KCNJ11 KIF21A LAMB2 PAH PDX1 PHOX2A PLAGL1 PLEC RAD21 RNASEH1 RRM2B STAT3 TBC1D24 TK2 TUBB3 ZFP57

Diseases (17) :79134 99885 99886 618000 616351 98915 329314 135700 2209 602078 254361 611376 329336 79500 254875 300570 73272

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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