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Term:
Reticulate Pigmentary Disorder, with Systemic Manifestations (DOID:9007281)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Abruzzo Erickson Syndrome  
Absence of Fingerprints  
acanthosis nigricans +   
Achromatopsia Incomplete, X-Linked 
Actinic Prurigo  
ADULT syndrome  
Agammaglobulinemia, X-Linked, Type 2 
Aicardi syndrome 
Albinism +   
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 16 
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
androgen insensitivity syndrome +   
Anemia, X-Linked, without Thrombocytopenia 
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Annular Erythema 
Anonychia with Flexural Pigmentation 
APP-related cerebral amyloid angiopathy  
Argyria 
arterial tortuosity syndrome  
Arthrogryposis, X-Linked, Type V 
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal recessive congenital ichthyosis +   
BADS syndrome 
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Basaran Yilmaz Syndrome  
Bloch-Sulzberger syndrome +   
Bornholm Eye Disease 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
bullous congenital ichthyosiform erythroderma  
Bullous Dystrophy, Hereditary Macular Type 
Buschke-Ollendorff Syndrome  
Cafe-au-Lait Spots +   
Cardiac Valvular Dysplasia, X-Linked  
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
CHILD Syndrome  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Choroideremia +   
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Palate with Ankyloglossia  
Collagenosis, Familial Reactive Perforating 
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty  
Congenital Alopecia X-Linked 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Idiopathic Intestinal Pseudoobstruction  
Congenital Myopathy, with Fiber-Type Disproportion, X-Linked 
Congenital Ptosis, Hereditary 2 
conjunctival pigmentation 
Cornelia De Lange Syndrome 2  
Cornelia De Lange Syndrome 5  
Corpus Callosum, Partial Agenesis of, X-Linked  
Craniofacioskeletal Syndrome 
CST3-related cerebral amyloid angiopathy +   
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Danon disease  
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
Dilated Cardiomyopathy 3A  
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Dowling-Degos disease +   
dyschromatosis symmetrica hereditaria  
dyschromatosis universalis hereditaria +   
Dyserythropoietic Anemia with Thrombocytopenia  
dyskeratosis congenita +   
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
ectodermal dysplasia +   
Ectodermal Dysplasia 1, Anhidrotic +   
Ehlers-Danlos syndrome +   
Ehlers-Danlos Syndrome Type 5 
Elejalde Disease 
Epidermodysplasia Verruciformis, X-Linked 
epidermolysis bullosa +   
Episodic Muscle Weakness, X-Linked 
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Erythropoietic Protoporphyria, X-Linked Dominant  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
External Ophthalmoplegia and Myopia 
Fabry disease +   
Familial Amyloid Polyneuropathies +   
Familial Exudative Vitreoretinopathy, X-Linked Recessive  
familial visceral amyloidosis  
favism  
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
FLOTCH Syndrome 
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
gelatinous drop-like corneal dystrophy  
Gerodermia Osteodysplastica  
glycogen storage disease VIII 
Graying of Hair, Precocious 
Griscelli syndrome +   
Grouped Pigmentation of the Macula 
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Heterochromia Iridis  
Histiocytic Dermatoarthritis 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hyaluronan Metabolism, Defect in 
Hydrocephalus with Cerebellar Agenesis 
Hyperpigmentation +   
Hypertrichosis Congenital Generalized X-Linked 
Hypogammaglobulinemia, X-Linked  
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
Hypoparathyroidism, X-Linked 
Hypopigmentation +   
hypopigmentation of eyelid 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
ichthyosis vulgaris +   
Idiopathic Short Stature, X-Linked  
Intracranial Berry Aneurysm 5 
Isolated Noncompaction of the Ventricular Myocardium +   
Isolated Osteopoikilosis 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leigh Syndrome, X-Linked  
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3  
lipoid proteinosis  
Liver Glycogenosis, X-Linked, Type II 
Macular Dystrophy, X-Linked +   
Macules Hereditary Congenital Hypopigmented and Hyperpigmented 
major affective disorder 2 
megalocornea +   
Membranoproliferative Glomerulonephritis, X-Linked 
MEND SYNDROME  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephaly Microcornea Syndrome Seemanova Type 
Microphthalmia, Isolated, with Coloboma 1 
Microphthalmia, Syndromic 7  
Midline Defects, X-Linked 
monilethrix +   
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Multiple Pterygium Syndrome, X-Linked 
Myopathy, Reducing Body, X-Linked, Childhood-Onset  
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe  
Myopia 1 
Myopia 13 
MYOPIA 26, X-LINKED, FEMALE-LIMITED  
Nasodigitoacoustic Syndrome  
NEMO Mutation with Immunodeficiency 
neonatal jaundice +   
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Nephrolithiasis, X-Linked Recessive, with Renal Failure  
Neural Tube Defects X-Linked 
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculotrichodysplasia 
Opitz GBBB Syndrome, Type I  
Optic Atrophy 2 
ornithine carbamoyltransferase deficiency  
orofaciodigital syndrome IX  
ovarian dysgenesis 2  
palmoplantar keratosis +   
Panhypopituitarism X-Linked  
Parana Hard Skin Syndrome 
Parkinson's Disease 12 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Phosphoglycerate Kinase 1 Deficiency  
Pigmented Purpuric Eruption 
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
porokeratosis +   
Premature Ovarian Failure 2a  
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
Progressive Hearing Loss Stapes Fixation  
Progressive Muscular Dystrophy, Pectorodorsal 
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
Properdin Deficiency, X-Linked  
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
pseudoxanthoma elasticum +   
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Red Skin Pigment Anomaly of New Guinea 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rothmund-Thomson syndrome +   
Russell-Silver Syndrome, X-Linked 
Selective Tooth Agenesis, X-Linked, 1  
Severe Congenital Neutropenia, X-Linked  
Sjogren-Larsson syndrome +   
Sketetal Dysplasia Coarse Facies Mental Retardation 
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  
Spina Bifida, X-Linked 
Spinal Muscular Atrophy, Distal, X-Linked 3  
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
Spinocerebellar Ataxia, X-Linked, 3 
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondylometaphyseal Dysplasia, X-Linked 
Stiff Skin Syndrome  
Storm Syndrome 
stromal corneal pigmentation 
Surfactant Metabolism Dysfunction, Pulmonary, 4  
Symmetric Acroleukopathy 
syndromic X-linked intellectual disability Turner type  
Systemic Hyalinosis  
Tang Hsi Ryu Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
Thrombocytopenia 1  
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
Thrombocytopenia, X-Linked, Intermittent  
Thrombocytosis, Familial X-Linked 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Trichothiodystrophy Syndromes +   
urticaria pigmentosa  
VACTERL/VATER Association with Hydrocephalus  
Vasquez Hurst Sotos Syndrome 
Vohwinkel Syndrome, Variant Form  
Von Willebrand Disease, X-Linked Form 
Waardenburg Syndrome Type 4 +   
Wells Jankovic Syndrome 
White Forelock with Malformations 
Whyte Murphy Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-linked ichthyosis +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked recessive disease +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-Linked Thrombophilia, due to Factor IX Defect  
X-Linked Vesicoureteral Reflux 
xeroderma pigmentosum +   
yellow nail syndrome +  

Synonyms
Exact Synonyms: PDR ;   X-linked reticulate pigmentary disorder with systemic manifestations ;   XLPDR ;   familial cutaneous amyloidosis
Primary IDs: MESH:C564461
Alternate IDs: OMIM:301220 ;   RDO:0013413

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