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Term:
Beare-Stevenson cutis gyrata syndrome (DOID:0050660)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
craniosynostosis +     
scalp dermatosis +     
Skin Abnormalities +     
3MC syndrome 1  
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
Acanthosis Nigricans Muscle Cramps Acral Enlargement 
achondrogenesis type II  
acrocephalosyndactylia +   
acrodermatitis +   
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
Adams-Oliver syndrome +   
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
advanced sleep phase syndrome +   
age related macular degeneration +   
Akesson Syndrome 
Alexander Disease  
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Andersen-Tawil syndrome  
Anetoderma +   
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
APP-related cerebral amyloid angiopathy  
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
Aurocephalosyndactyly 
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal dominant Alport syndrome  
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
autosomal dominant cutis laxa +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant Parkinson's disease 1  
autosomal dominant Parkinson's disease 4  
autosomal dominant Parkinson's disease 8  
autosomal dominant polycystic kidney disease +   
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant sideroblastic anemia 4  
autosomal dominant type IV Ehlers-Danlos syndrome +   
Axenfeld-Rieger syndrome +   
Baller-Gerold syndrome  
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser Rodeck Garner syndrome 
Barber-Say syndrome  
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
An autosomal dominant disease that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
Blepharophimosis Syndrome Type 1  
Blepharophimosis Syndrome Type 2  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Bloch-Sulzberger syndrome +   
blue color blindness  
Bohring Syndrome  
Book Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
C1q Deficiency  
CADASIL 1  
CADASIL 2  
Calabro Syndrome 
campomelic dysplasia +   
Carney complex +   
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
cherubism +   
Clouston syndrome  
cocoon syndrome  
Cole-Carpenter syndrome +   
Costello syndrome  
Cowden syndrome +   
Craniosynostosis 2  
Craniosynostosis 3  
Craniosynostosis 5  
Craniosynostosis 6  
Craniosynostosis 7  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Anomalies of the Cranial Base and Digits 
Craniosynostosis with Ectopia Lentis 
Craniosynostosis with Fibular Aplasia 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Craniosynostosis, Anal Anomalies, and Porokeratosis 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis, Philadelphia Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Craniotelencephalic Dysplasia 
Crouzon syndrome +   
Crouzon syndrome-acanthosis nigricans syndrome  
Culler-Jones syndrome  
Cutaneous Hemangiomatosis with Associated Features 
Cutis Verticis Gyrata and Mental Deficiency 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Dandruff 
Denys-Drash syndrome  
Dermal Ridges, Nelson Syndrome 
Dermal Ridges, Patternless 
Dermoodontodysplasia 
Duane-radial ray syndrome  
dyskeratosis congenita +   
Dyskeratosis, Hereditary Benign Intraepithelial 
dysplastic nevus syndrome +   
ectodermal dysplasia +   
EEC syndrome +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
Familial Acanthosis Nigricans 
familial cold autoinflammatory syndrome 4  
Familial Dyskeratotic Comedones 
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
Familial Popliteal Pterygium Syndrome 
Feingold syndrome +   
Fine-Lubinsky Syndrome 
Frasier syndrome  
Frontonasal Dysplasia 2  
Genoa Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
HAIR-AN syndrome 
Hairy Palms and Soles 
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
hereditary breast ovarian cancer syndrome +   
hereditary hemorrhagic telangiectasia +   
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
Holt-Oram syndrome  
Hordnes Engebretsen Knudtson syndrome 
Hunter-McAlpine Syndrome 
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations  
Hypohidrosis with Abnormal Palmar Dermal Ridges 
hypomyelinating leukodystrophy 6  
hypophosphatasia +   
ichthyosis +   
ichthyosis vulgaris +   
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
Iida Kannari Syndrome 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans  
iridogoniodysgenesis syndrome +   
Jackson-Weiss Syndrome  
juvenile polyposis syndrome +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Kleeblattschaedel Syndrome 
LADD syndrome  
Larsen syndrome  
Lelis Syndrome 
LEOPARD syndrome +   
lethal restrictive dermopathy  
Li-Fraumeni syndrome +   
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2  
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3  
Loeys-Dietz syndrome +   
Lowry Maclean syndrome 
Lynch syndrome +   
macrocephaly-autism syndrome  
malignant hyperthermia +   
mandibulofacial dysostosis, Guion-Almeida type  
maturity-onset diabetes of the young +   
McCune Albright syndrome  
Mehta Lewis Patton Syndrome 
Michelin Tire Baby Syndrome +   
Microphthalmia, Syndromic 7  
mitochondrial DNA depletion syndrome 12a  
monilethrix +   
Muckle-Wells syndrome  
Muenke syndrome  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
multiple pterygium syndrome +   
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
nail-patella syndrome +   
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
Nonsyndromic Trigonocephaly +   
ocular albinism with sensorineural deafness  
Oculocerebrocutaneous Syndrome 
Opitz GBBB Syndrome, Type II  
Opitz Trigonocephaly Syndrome  
ovarian dysgenesis 8  
pachyonychia congenita +   
Pallister-Hall syndrome +   
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING  
paraganglioma +   
Pelger-Huet anomaly +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
permanent neonatal diabetes mellitus +   
Pfeiffer Tietze Welte Syndrome 
photosensitive trichothiodystrophy +   
piebaldism +   
Piepkorn Karp Hickok syndrome 
Plagiocephaly and X-Linked Mental Retardation 
poikiloderma with neutropenia  
Poikiloderma, Hereditary Sclerosing +   
polycystic liver disease +   
popliteal pterygium syndrome +   
Port-Wine Stain +   
Prolidase Deficiency  
proximal symphalangism  
pseudoxanthoma elasticum +   
Pterygium Colli, Isolated 
punctate palmoplantar keratoderma type III 
Rapp-Hodgkin syndrome  
renal coloboma syndrome  
Ridges-off-the-end Syndrome 
Rosenthal-Kloepfer Syndrome 
Rothmund-Thomson syndrome +   
Rubinstein-Taybi syndrome +   
SADDAN  
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
Sclerema Neonatorum 
Sensenbrenner syndrome +   
Shprintzen Golberg Craniosynostosis  
Skeletal Dysplasia, San Diego Type 
Skin/Hair/Eye Pigmentation, Variation In, 1  
Skin/Hair/Eye Pigmentation, Variation In, 10  
Skin/Hair/Eye Pigmentation, Variation In, 11  
Skin/Hair/Eye Pigmentation, Variation In, 4  
Skin/Hair/Eye Pigmentation, Variation In, 5  
Skin/Hair/Eye Pigmentation, Variation In, 6  
Skin/Hair/Eye Pigmentation, Variation In, 7  
Skin/Hair/Eye Pigmentation, Variation In, 8  
Skin/Hair/Eye Pigmentation, Variation In, 9  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Stickler syndrome +   
tarsal-carpal coalition syndrome  
Tietz syndrome  
Timothy syndrome  
tinea capitis +  
Townes-Brocks syndrome  
transthyretin amyloidosis  
Treacher Collins syndrome  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Trichothiodystrophy Syndromes +   
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
tuberous sclerosis +   
type 1 diabetes mellitus 2  
Urban Schosser Spohn Syndrome 
Vascular Hyalinosis 
Waardenburg's syndrome +   
Winter Shortland Temple Syndrome  
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: BEARE-STEVENSON SYNDROME ;   BSTVS ;   Cutis Gyrata Syndrome of Beare And Stevenson ;   Cutis Gyrata Syndrome of Beare-Stevenson
Primary IDs: MESH:C565129 ;   RDO:0013856
Alternate IDs: OMIM:123790
Xrefs: GARD:332
Definition Sources: https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome

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