Bulbous nose
Symptom Information:
Symptom ID: | HPO:0000414 | ||||||||
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 head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the face(HPO:0000271) Abnormality of the nose(HPO:0000366) Abnormal nasal morphology(HPO:0005105) Bulbous nose(HPO:0000414) Abnormality of the external nose(HPO:0010938) Abnormality of the nasal tip(HPO:0000436) Bulbous nose(HPO:0000414) MedDRA: |
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Database Frequency: | 63 / 7739 | ||||||||
Resource: |
All diseases associated with this symptom:
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
16p13.3 microduplication syndrome | (Orphanet:96078) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
3q29 microduplication | (Orphanet:251038) |
5p13 microduplication syndrome | (Orphanet:329802) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
ALG3-CDG | (Orphanet:79321) |
AREDYLD syndrome | (Orphanet:1133) |
Acromegaloid facial appearance syndrome | (Orphanet:965) |
Acromicric dysplasia | (Orphanet:969) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
BNAR syndrome | (Orphanet:217266) |
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION | (OMIM:613627) |
Barber-Say syndrome | (Orphanet:1231) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | (OMIM:614437) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carnitine palmitoyl transferase II deficiency, neonatal form | (Orphanet:228308) |
Distal arthrogryposis type 5D | (Orphanet:329457) |
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS | (OMIM:227255) |
FANCONI ANEMIA, COMPLEMENTATION GROUP P | (OMIM:613951) |
FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE | (OMIM:227260) |
Fabry disease | (Orphanet:324) |
Gingival fibromatosis-hypertrichosis syndrome | (Orphanet:2026) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION | (OMIM:613870) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual deficit, X-linked, Shashi type | (Orphanet:85286) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
KAHRIZI SYNDROME | (OMIM:612713) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Koolen-De Vries syndrome | (Orphanet:96169) |
Langer-Giedion syndrome | (Orphanet:502) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | (OMIM:614562) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 | (OMIM:615009) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
Monosomy 13q14 | (Orphanet:1587) |
Monosomy 22q13 | (Orphanet:48652) |
Neonatal hemochromatosis | (Orphanet:446) |
Non-progressive cerebellar ataxia with intellectual deficit | (Orphanet:314647) |
Orofaciodigital syndrome type 3 | (Orphanet:2752) |
Otospondylomegaepiphyseal dysplasia | (Orphanet:1427) |
PALANT CLEFT PALATE SYNDROME | (OMIM:260150) |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM | (OMIM:614501) |
RUIJS-AALFS SYNDROME | (OMIM:616200) |
Renpenning syndrome | (Orphanet:3242) |
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | (OMIM:614066) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | (OMIM:614067) |
Schimke immuno-osseous dysplasia | (Orphanet:1830) |
Severe intellectual deficit and progressive spastic paraplegia | (Orphanet:280763) |
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES | (OMIM:273390) |
Torg-Winchester syndrome | (Orphanet:3460) |
Trigonocephaly - bifid nose - acral anomalies | (Orphanet:3368) |
VELOCARDIOFACIAL SYNDROME | (OMIM:192430) |
Wilson-Turner syndrome | (Orphanet:3459) |
Xq27.3q28 duplication syndrome | (Orphanet:261483) |