Hypertelorism
Basic details
Preferred term: Hypertelorism
Alt. terms: Excessive orbital separation | Increased distance between eye sockets | Increased distance between eyes | Increased interpupillary distance | Ocular hypertelorism | Wide-set eyes | Widely spaced eyes | Widened interpupillary distance
HPO term: Hypertelorism
HPO code: HP:0000316
GenIA ID: 1139
Last updated on: 2021-08-02 21:50:33
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
102289 | M | 214934![]() |
0 | Moroccan | Hypertelorism | Otofaciocervical syndrome 2 | PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)] |
102294 | F | 214934![]() |
0 | Moroccan | Hypertelorism | Otofaciocervical syndrome 2 | PMID:28657137 [Fam.V:1:V.18(V:18)]; PMID:32111619 [Fam.B:V.2(P3)] |
102353 | M | 214936![]() |
0 | Indian | Hypertelorism | Otofaciocervical syndrome 2 | PMID:29681087 [P1(II.1)] |
102356 | F | 214936![]() |
0 | Indian | Hypertelorism | Otofaciocervical syndrome 2 | PMID:29681087 [Fam.P1:II.2(P2)] |
102466 | M | 214962![]() |
0 | Polish | Hypertelorism | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
103788 | M | 215242![]() |
- | South Korean | Hypertelorism | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
104392 | F | 215520![]() |
1 | French | Hypertelorism | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104554 | M | 215551![]() |
- | Pakistani | Hypertelorism | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)] |
105261 | F | 215680 | - | Egyptian | Hypertelorism | Otofaciocervical syndrome 2 | PMID:37924468 [Patient(III.1)] |
105339 | F | 215701![]() |
0 | Pakistani | Hypertelorism | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.4(P1)] |
105564 | M | 215807![]() |
0 | Spanish | Hypertelorism | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).