Bulbous nose

Symptom Information:

Symptom ID: HPO:0000414
Synonyms:
Bulbous nasal tip [HPO:0000414]
Bulbous nasal tip [OMIM:Bulbous nasal tip]
Bulbous nose [OMIM:Bulbous nose]
Long/large/bulbous nose [Orphanet:8060]
Bulbous nasal tip (1 patient) [OMIM:Bulbous nasal tip (1 patient)]
Bulbous nasal tip (95%) [OMIM:Bulbous nasal tip (95%)]
Bulbous nasal tip (in some patients) [OMIM:Bulbous nasal tip (in some patients)]
Bulbous nose (in one family) [OMIM:Bulbous nose (in one family)]
Quality:
Cross references:
HPO:0000455 "Broad nasal tip" [Orphanet:8060]
Orphanet:8060 "Long/large/bulbous nose" [Orphanet:8060]
OMIM: "Bulbous nasal tip" [OMIM:Bulbous nasal tip]
OMIM: "Bulbous nose" [OMIM:Bulbous nose]
OMIM: "Bulbous nasal tip (1 patient)" [OMIM:Bulbous nasal tip (1 patient)]
OMIM: "Bulbous nasal tip (95%)" [OMIM:Bulbous nasal tip (95%)]
OMIM: "Bulbous nasal tip (in some patients)" [OMIM:Bulbous nasal tip (in some patients)]
OMIM: "Bulbous nose (in one family)" [OMIM:Bulbous nose (in one family)]
Is a (Direct Parents):
HPO         Abnormality of the nasal tip
Orphanet Abnormality of the nose
HPO         Abnormal nasal morphology
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)
                   Abnormality of the external nose(HPO:0010938)
                      Abnormality of the nasal tip(HPO:0000436)
                         Bulbous nose(HPO:0000414)
                   Abnormal nasal morphology(HPO:0005105)
                      Bulbous nose(HPO:0000414)
MedDRA:
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)