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Term:
pseudoxanthoma elasticum (DOID:2738)
Annotations: Rat: (20) Mouse: (14) Human: (14) Chinchilla: (14) Bonobo: (12) Dog: (14) Squirrel: (14)
Parent Terms Term With Siblings Child Terms
3-M syndrome +   
3MC syndrome +   
ABCD syndrome  
Absence of Fingerprints  
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acrodermatitis +   
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
Actinic Prurigo  
adult spinal muscular atrophy  
agenesis of the corpus callosum with peripheral neuropathy  
ainhum +  
Albinism +   
Alpha-2-Deficient Collagen Disease 
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Anetoderma +   
Annular Erythema 
Antley-Bixler syndrome +   
ARC syndrome  
arrhythmogenic right ventricular dysplasia 11  
arterial tortuosity syndrome  
asphyxiating thoracic dystrophy +   
Athabaskan brainstem dysgenesis syndrome  
atopic dermatitis +   
atrichia with papular lesions  
Atrophia Maculosa Varioliformis Cutis, Familial 
Au-Kline Syndrome  
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal recessive Alport syndrome  
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal spinal muscular atrophy 1  
autosomal recessive distal spinal muscular atrophy 2  
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive early-onset Parkinson's disease 15  
autosomal recessive early-onset Parkinson's disease 23  
autosomal recessive early-onset Parkinson's disease 6  
autosomal recessive early-onset Parkinson's disease 7  
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive juvenile Parkinson's disease 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive Parkinson's disease 14  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
autosomal recessive type IV Ehlers-Danlos syndrome 
Barber-Say syndrome  
Bardet-Biedl syndrome +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Beare-Stevenson cutis gyrata syndrome  
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad 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 +   
Bloom syndrome  
bone disease +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Book Syndrome 
Bowen-Conradi syndrome  
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
C1q Deficiency  
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
Carney complex +   
cartilage disease +   
cartilage-hair hypoplasia  
cavernous hemangioma +   
CD3epsilon deficiency 
CD3gamma deficiency 
CD40 deficiency  
CEDNIK syndrome  
cellulitis +   
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Chediak-Higashi syndrome +   
chronic interstitial cystitis 
cleft lip-palate-ectodermal dysplasia syndrome  
Cockayne syndrome +   
cocoon syndrome  
cold-induced sweating syndrome +   
collagen disease +   
Collagenosis, Familial Reactive Perforating 
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Fascial Dystrophy 
Connective Tissue Neoplasms +   
craniolenticulosutural dysplasia  
cryoglobulinemia +   
Cutaneous Bullous Amyloidosis 
Cutaneous Hemangiomatosis with Associated Features 
cutaneous lupus erythematosus +   
cutaneous porphyria  
cutis laxa +   
cystic fibrosis +   
dental pulp disease +   
Dermal Ridges, Nelson Syndrome 
Dermal Ridges, Patternless 
dermatomyositis +   
Dermoodontodysplasia 
dilated cardiomyopathy with woolly hair and keratoderma +   
Donnai-Barrow syndrome  
Donohue syndrome +   
Dowling-Degos disease +   
Dupuytren Contracture +  
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
Dyskeratosis, Hereditary Benign Intraepithelial 
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
Ehlers-Danlos syndrome progeroid type +   
Ellis-Van Creveld syndrome +   
enthesopathy +  
epidermodysplasia verruciformis +   
epidermolysis bullosa +   
epidermolysis bullosa simplex with muscular dystrophy  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
Familial Dyskeratotic Comedones 
familial erythrocytosis 2  
Familial Popliteal Pterygium Syndrome 
fasciitis +  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fibrodysplasia ossificans progressiva  
fibular hypoplasia and complex brachydactyly  
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Fraser syndrome +   
funisitis 
Galloway-Mowat syndrome +   
gangliosidosis +   
Gerodermia Osteodysplastica  
Griscelli syndrome +   
Hailey-Hailey disease  
Hairy Palms and Soles 
Henoch-Schoenlein purpura +   
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary hemorrhagic telangiectasia +   
hereditary mucosal leukokeratosis  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
Hermansky-Pudlak syndrome +   
Histiocytic Dermatoarthritis 
homocystinuria +   
Hyaluronan Metabolism, Defect in 
hydrolethalus syndrome +   
hyperglobulinemic purpura 
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations  
hypertelorism, microtia, facial clefting syndrome 
Hypohidrosis with Abnormal Palmar Dermal Ridges 
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
ichthyosis +   
ichthyosis vulgaris +   
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
interstitial keratitis +  
interstitial lung disease +   
Isolated Osteopoikilosis 
JMP syndrome  
Johanson-Blizzard syndrome  
Juvenile Spring Eruption of Ears 
Kahrizi syndrome  
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Laron syndrome +   
Laurence-Moon syndrome  
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2  
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3  
Lipedema 
lipodystrophy +   
lipoid proteinosis  
Marden-Walker Syndrome  
Marinesco-Sjogren syndrome  
mediastinitis +  
Meier-Gorlin syndrome +   
Michelin Tire Baby Syndrome +   
microphthalmia with limb anomalies  
Microphthalmia, Syndromic 7  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial pyruvate carrier deficiency  
mixed connective tissue disease  
monilethrix +   
mucinoses +   
Muir-Torre syndrome  
mulibrey nanism  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple myeloma +   
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
multiple pterygium syndrome +   
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Nasu-Hakola disease  
neonatal diabetes mellitus with congenital hypothyroidism  
nephronophthisis +   
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
Netherton syndrome  
Nijmegen breakage syndrome +   
nonphotosensitive trichothiodystrophy +   
Noonan syndrome +   
ochronosis +  
Oculocerebrocutaneous Syndrome 
oculocutaneous albinism +   
Oculotrichodysplasia 
orofaciodigital syndrome IX  
orofaciodigital syndrome V  
ossification of the posterior longitudinal ligament of spine  
Osteopoikilosis +   
osteoporosis-pseudoglioma syndrome  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Pendred syndrome  
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
Peyronie's disease  
PHARC syndrome  
Pierson syndrome  
plantar fascial fibromatosis 
Plasminogen Deficiency, Type I  
poikiloderma with neutropenia  
Poikiloderma, Hereditary Sclerosing +   
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2  
porokeratosis +   
Port-Wine Stain +   
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
progeria +   
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
prothrombin deficiency +   
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
Pterygium Colli, Isolated 
rapadilino syndrome  
Reticulate Pigmentary Disorder, with Systemic Manifestations  
rheumatic disease +   
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
Ridges-off-the-end Syndrome 
Roberts syndrome  
Rothmund-Thomson syndrome +   
salt and pepper syndrome  
SC phocomelia syndrome  
Schwartz-Jampel syndrome 1  
Sclerema Neonatorum 
scurvy  
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
Shwartzman phenomenon  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
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  
Sotos syndrome +   
spermatogenic failure 9  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type 
Stickler syndrome +   
Stiff Skin Syndrome  
Storm Syndrome 
synovitis +   
Systemic Hyalinosis  
systemic scleroderma +   
temtamy preaxial brachydactyly syndrome  
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
Trichothiodystrophy Syndromes +   
trimethylaminuria  
triple-A syndrome  
Urban Schosser Spohn Syndrome 
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
Vascular Hyalinosis 
Vici syndrome  
Vohwinkel Syndrome, Variant Form  
Volkmann contracture 
Waldenstroem's macroglobulinemia  
Warburg micro syndrome +   
Werner syndrome +   
Winter Shortland Temple Syndrome  
Wolcott-Rallison syndrome  
X-linked ichthyosis +   
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: Groenblad-Strandberg Syndrome ;   Gronblad Strandberg Syndrome ;   Incomplete Pseudoxanthoma Elasticum ;   Incomplete Pseudoxanthoma Elasticums ;   PXE ;   Pseudoxanthoma Elasticum, Autosomal Dominant ;   Pseudoxanthoma Elasticum, Forme Fruste
Narrow Synonyms: GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF ;   PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ;   PXE, MODIFIER OF SEVERITY OF
Related Synonyms: Pseudoxanthoma Elasticum, Modifier Of Severity Of
Primary IDs: MESH:D011561 ;   RDO:0006430
Alternate IDs: OMIM:177850 ;   OMIM:264800
Xrefs: GARD:9643 ;   ORDO:758
Definition Sources: MESH:D011561, http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum, http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract

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