Proptosis
Symptom Information:
Symptom ID: | HPO:0000520 | |||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the eye(HPO:0000478) Abnormal eye morphology(HPO:0012372) Abnormality of the globe(HPO:0012374) Abnormality of globe location(HPO:0100886) Proptosis(HPO:0000520) Abnormality of head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the face(HPO:0000271) obsolete Abnormality of the ocular region(HPO:0000284) Abnormality of globe location(HPO:0100886) Proptosis(HPO:0000520) Abnormality of the orbital region(HPO:0000315) Abnormality of globe location(HPO:0100886) Proptosis(HPO:0000520) MedDRA: Endocrine disorders(MedDRA:10014698) Thyroid gland disorders(MedDRA:10043739) Thyroid hyperfunction disorders(MedDRA:10043740) Proptosis(HPO:0000520) |
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Database Frequency: | 192 / 7739 | |||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
19p13.12 microdeletion syndrome | (Orphanet:254346) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
5p13 microduplication syndrome | (Orphanet:329802) |
AL amyloidosis | (Orphanet:85443) |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | (OMIM:201750) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
AXENFELD-RIEGER SYNDROME, TYPE 3 | (OMIM:602482) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Acro-osteolysis-keloid-like lesions-premature aging syndrome | (Orphanet:363665) |
Acrocraniofacial dysostosis | (Orphanet:949) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Aminopterin/methotrexate embryofetopathy | (Orphanet:1908) |
Antley-Bixler syndrome | (Orphanet:83) |
Apert syndrome | (Orphanet:87) |
Arachnodactyly - abnormal ossification - intellectual deficit | (Orphanet:1129) |
Atelosteogenesis type I | (Orphanet:1190) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive distal osteolysis syndrome | (Orphanet:2776) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
Baller-Gerold syndrome | (Orphanet:1225) |
Beckwith-Wiedemann syndrome | (Orphanet:116) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Bohring-Opitz syndrome | (Orphanet:97297) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CINCA syndrome | (Orphanet:1451) |
COLE-CARPENTER SYNDROME 2 | (OMIM:616294) |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | (OMIM:614437) |
Caffey disease | (Orphanet:1310) |
Campomelic dysplasia | (Orphanet:140) |
Camptodactyly - joint contractures - facial skeletal defects | (Orphanet:1323) |
Camurati-Engelmann disease | (Orphanet:1328) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Cherubism | (Orphanet:184) |
Childhood-onset hypophosphatasia | (Orphanet:247667) |
Chondrodysplasia with joint dislocations, gPAPP type | (Orphanet:280586) |
Chondrodysplasia, Blomstrand type | (Orphanet:50945) |
Cole-Carpenter syndrome | (Orphanet:2050) |
Cornelia de Lange syndrome | (Orphanet:199) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
Craniosynostosis - fibular aplasia | (Orphanet:1533) |
Craniosynostosis - intracranial calcifications | (Orphanet:52054) |
Crouzon disease | (Orphanet:207) |
Crouzon syndrome - acanthosis nigricans | (Orphanet:93262) |
Cutis gyrata - acanthosis nigricans - craniosynostosis | (Orphanet:1555) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
DESBUQUOIS DYSPLASIA 2 | (OMIM:615777) |
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS | (OMIM:600771) |
Desbuquois syndrome | (Orphanet:1425) |
Distal monosomy 9p | (Orphanet:1642) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Dysmorphism - conductive hearing loss - heart defect | (Orphanet:289553) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Dyssegmental dysplasia - glaucoma | (Orphanet:1804) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 | (OMIM:130070) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 | (OMIM:615349) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | (Orphanet:157965) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Embryofetopathy due to oral anticoagulant therapy | (Orphanet:1914) |
Eosinophilic granuloma | (Orphanet:99871) |
Erdheim-Chester disease | (Orphanet:35687) |
FETAL AKINESIA DEFORMATION SEQUENCE | (OMIM:208150) |
FRONTOOCULAR SYNDROME | (OMIM:605321) |
Faisalabad histiocytosis | (Orphanet:254707) |
Fanconi anemia | (Orphanet:84) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal akinesia deformation sequence | (Orphanet:994) |
Fibrochondrogenesis | (Orphanet:2021) |
Filippi syndrome | (Orphanet:3255) |
Frank-Ter Haar syndrome | (Orphanet:137834) |
GRAVES DISEASE, SUSCEPTIBILITY TO, 1 | (OMIM:275000) |
Gorlin syndrome | (Orphanet:377) |
Granulomatosis with polyangiitis | (Orphanet:900) |
Growth deficiency - brachydactyly - dysmorphism | (Orphanet:2055) |
H syndrome | (Orphanet:168569) |
Hand-Schüller-Christian disease | (Orphanet:99873) |
Harlequin ichthyosis | (Orphanet:457) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hirsutism - skeletal dysplasia - intellectual deficit | (Orphanet:2156) |
Holoprosencephaly - caudal dysgenesis | (Orphanet:2165) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hutchinson-Gilford progeria syndrome | (Orphanet:740) |
Hydatidosis | (Orphanet:400) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypomandibular faciocranial dysostosis | (Orphanet:1790) |
Insulin-resistance syndrome type A | (Orphanet:2297) |
Isolated brachycephaly | (Orphanet:35099) |
Isolated cloverleaf skull syndrome | (Orphanet:2343) |
Jackson-Weiss syndrome | (Orphanet:1540) |
KEPPEN-LUBINSKY SYNDROME | (OMIM:614098) |
KLEEBLATTSCHAEDEL | (OMIM:148800) |
Kniest dysplasia | (Orphanet:485) |
LOEYS-DIETZ SYNDROME 1 | (OMIM:609192) |
LOEYS-DIETZ SYNDROME 2 | (OMIM:610168) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Lateral meningocele syndrome | (Orphanet:2789) |
Leprechaunism | (Orphanet:508) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Loeys-Dietz syndrome type 1 | (Orphanet:60030) |
Lowry-MacLean syndrome | (Orphanet:2409) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | (OMIM:210710) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:604804) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE | (OMIM:601420) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
Malignant hyperthermia - arthrogryposis - torticollis | (Orphanet:2215) |
Mandibular hypoplasia-deafness-progeroid syndrome | (Orphanet:363649) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Mandibuloacral dysplasia with type B lipodystrophy | (Orphanet:90154) |
Marshall syndrome | (Orphanet:560) |
Marshall-Smith syndrome | (Orphanet:561) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Metaphyseal chondrodysplasia, Jansen type | (Orphanet:33067) |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type | (Orphanet:85172) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microcephaly - cervical spine fusion anomalies | (Orphanet:2522) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Muenke syndrome | (Orphanet:53271) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multicentric carpo-tarsal osteolysis with or without nephropathy | (Orphanet:2774) |
Nestor-Guillermo progeria syndrome | (Orphanet:280576) |
Neu-Laxova syndrome | (Orphanet:2671) |
Neurofibromatosis type 1 | (Orphanet:636) |
Noonan syndrome | (Orphanet:648) |
OSTEOGENESIS IMPERFECTA, TYPE VII | (OMIM:610682) |
OSTEOGENESIS IMPERFECTA, TYPE VIII | (OMIM:610915) |
Okamoto syndrome | (Orphanet:2729) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Osteoglophonic dwarfism | (Orphanet:2645) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | (OMIM:615803) |
Pfeiffer syndrome | (Orphanet:710) |
Pfeiffer syndrome type 1 | (Orphanet:93258) |
Pfeiffer syndrome type 2 | (Orphanet:93259) |
Pfeiffer syndrome type 3 | (Orphanet:93260) |
Pierre Robin syndrome - faciodigital anomaly | (Orphanet:2888) |
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome | (Orphanet:254723) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome | (Orphanet:276432) |
Primary localized amyloidosis | (Orphanet:314709) |
Prolidase deficiency | (Orphanet:742) |
Proteus syndrome | (Orphanet:744) |
Pycnodysostosis | (Orphanet:763) |
RIENHOFF SYNDROME | (OMIM:615582) |
ROBERTS SYNDROME | (OMIM:268300) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
Relapsing polychondritis | (Orphanet:728) |
Roberts syndrome | (Orphanet:3103) |
Rosaï-Dorfman disease | (Orphanet:158014) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SCLEROSTEOSIS 1 | (OMIM:269500) |
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES | (OMIM:615789) |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | (OMIM:614800) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
Scheie syndrome | (Orphanet:93474) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Sclerosteosis | (Orphanet:3152) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spinocerebellar ataxia type 3 | (Orphanet:98757) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Stickler syndrome | (Orphanet:828) |
Stickler syndrome type 1 | (Orphanet:90653) |
Syndromic diarrhea | (Orphanet:84064) |
Syndromic multisystem autoimmune disease due to Itch deficiency | (Orphanet:228426) |
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE | (OMIM:274300) |
TRICHOHEPATOENTERIC SYNDROME 1 | (OMIM:222470) |
Tetralogy of Fallot | (Orphanet:3303) |
Tetrasomy 12p | (Orphanet:884) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Torg-Winchester syndrome | (Orphanet:3460) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Trigonocephaly - short stature - developmental delay | (Orphanet:3369) |
Trisomy 12p | (Orphanet:1699) |
Waldenström macroglobulinemia | (Orphanet:33226) |
Weissenbacher- Zweymuller syndrome | (Orphanet:3450) |
Whipple disease | (Orphanet:3452) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wyburn-Mason syndrome | (Orphanet:53719) |
Yunis-Varon syndrome | (Orphanet:3472) |