Human Phenotype Ontology 
Grandparent Node:
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Abnormality of globe location (HP:0100886)help
Parent Node:
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Abnormal morphology of bony orbit of skull (HP:3000030)help
Parent Node:
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Proptosis (HP:0000520)help
..Starting node
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Shallow orbits (HP:0000586)help
Term ID: 586
Name: Shallow orbits
Synonym: Decreased depth of eye sockets; Decreased depth of orbits; Shallow eye sockets; Small shallow orbits
Definition: Reduced depth of the orbits associated with prominent-appearing ocular globes.
Comments:
Reference: HP:0000586
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000586HP:0000586Shallow orbits0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0000586HP:0000586Shallow orbits0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000586HP:0000586Shallow orbits0CACNA1C CL E G H7751390OMIM:620029572
HP:0000586HP:0000586Shallow orbits0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000586HP:0000586Shallow orbits0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0000586HP:0000586Shallow orbits0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000586HP:0000586Shallow orbits0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000586HP:0000586Shallow orbits0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000586HP:0000586Shallow orbits0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0000586HP:0000586Shallow orbits0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000586HP:0000586Shallow orbits0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000586HP:0000586Shallow orbits0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0000586HP:0000586Shallow orbits0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0000586HP:0000586Shallow orbits0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000586HP:0000586Shallow orbits0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000586HP:0000586Shallow orbits0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000586HP:0000586Shallow orbits0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000586HP:0000586Shallow orbits0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0000586HP:0000586Shallow orbits0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0000586HP:0000586Shallow orbits0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0000586HP:0000586Shallow orbits0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0000586HP:0000586Shallow orbits0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000586HP:0000586Shallow orbits0MITF CL E G H42867105OMIM:617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.91
HP:0000586HP:0000586Shallow orbits0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000586HP:0000586Shallow orbits0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0000586HP:0000586Shallow orbits0P4HB CL E G H50348548OMIM:112240Cole-Carpenter syndrome 1.2
HP:0000586HP:0000586Shallow orbits0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000586HP:0000586Shallow orbits0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0000586HP:0000586Shallow orbits0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000586HP:0000586Shallow orbits0SERPINH1 CL E G H8711546OMIM:613848Osteogenesis imperfecta, type X.52
HP:0000586HP:0000586Shallow orbits0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000586HP:0000586Shallow orbits0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0000586HP:0000586Shallow orbits0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiencyHP:0040282 - Frequent2
HP:0000586HP:0000586Shallow orbits0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000586HP:0000586Shallow orbits0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0000586HP:0000586Shallow orbits0TWIST1 CL E G H729112428OMIM:180750Robinow-Sorauf syndrome.18
HP:0000586HP:0000586Shallow orbits0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0000586HP:0000586Shallow orbits0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (31) :ADAMTS10 ALG9 CACNA1C ESCO2 FBN1 FGFR1 FGFR2 FLNB GNPTAB HERC1 HNRNPK HYMAI INPPL1 KCNJ6 LEMD2 LMNA MAF MITF MTX2 NFIX P4HB PLAGL1 PLOD3 POLA1 SERPINH1 SETBP1 SHPK SIN3A SKI TWIST1 ZMPSTE24

Diseases (34) :OMIM:277600 ORPHA:79328 OMIM:620029 OMIM:268300 OMIM:608328 OMIM:166250 OMIM:101600 OMIM:101200 OMIM:123500 OMIM:101400 OMIM:150250 ORPHA:576 ORPHA:457359 ORPHA:352665 ORPHA:453504 ORPHA:96191 OMIM:258480 ORPHA:435628 OMIM:619322 ORPHA:740 ORPHA:1272 OMIM:617306 OMIM:619127 OMIM:602535 OMIM:112240 OMIM:612394 OMIM:301030 OMIM:613848 OMIM:269150 ORPHA:798 ORPHA:440713 OMIM:613406 OMIM:182212 OMIM:180750
 

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