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 anterior eye segment morphology (HP:0004328)

Parent Node:
Abnormal anterior chamber morphology (HP:0000593)

..Starting node
..Shallow anterior chamber (HP:0000594)

Term ID:

594

Name:

Shallow anterior chamber

Synonym:

Definition:

Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.

Comments:

Reference:

HP:0000594

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal trabecular meshwork morphology (HP:0012630)

Absent anterior chamber of the eye (HP:0008037)

Anterior chamber cells (HP:0025560)

Anterior chamber cyst (HP:0025311)

Anterior chamber flare (HP:0031616)

Anterior chamber inflammatory cells (HP:0031701)

Anterior chamber red blood cells (HP:0031702)

Anterior chamber synechiae (HP:0007833)

Corneolenticular adhesion (HP:0011485)

Deep anterior chamber (HP:0007765)

Hypopyon (HP:0031615)

Ocular anterior segment dysgenesis (HP:0007700)

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:0000594	HP:0000594	Shallow anterior chamber	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0000594	HP:0000594	Shallow anterior chamber	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0000594	HP:0000594	Shallow anterior chamber	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0000594	HP:0000594	Shallow anterior chamber	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.	4
HP:0000594	HP:0000594	Shallow anterior chamber	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0000594	HP:0000594	Shallow anterior chamber	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0000594	HP:0000594	Shallow anterior chamber	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.	123
HP:0000594	HP:0000594	Shallow anterior chamber	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0000594	HP:0000594	Shallow anterior chamber	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	39
HP:0000594	HP:0000594	Shallow anterior chamber	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0000594	HP:0000594	Shallow anterior chamber	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000594	HP:0000594	Shallow anterior chamber	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000594	HP:0000594	Shallow anterior chamber	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000594	HP:0000594	Shallow anterior chamber	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000594	HP:0000594	Shallow anterior chamber	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000594	HP:0000594	Shallow anterior chamber	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000594	HP:0000594	Shallow anterior chamber	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000594	HP:0000594	Shallow anterior chamber	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000594	HP:0000594	Shallow anterior chamber	0	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	HP:0040283 - Occasional	39

Genes (16) :ADAMTS10 ASPH ATOH7 FBN1 FZD4 LTBP2 NDP PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY RAB18 TSPAN12

Diseases (11) :OMIM:277600 OMIM:601552 ORPHA:91495 OMIM:221900 OMIM:608328 OMIM:614819 OMIM:305390 OMIM:310600 ORPHA:247262 OMIM:614222 OMIM:613310

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen