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Term:
X-linked reticulate pigmentary disorder (DOID:0111834)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
acanthosis nigricans +   
Achromatopsia Incomplete, X-Linked 
Actinic Prurigo  
adermatoglyphia  
ADULT syndrome  
Aicardi syndrome 
Albinism +   
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
AMME complex  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
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 
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 +   
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma  
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
cherubism +   
Choroideremia +   
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 bilateral absence of vas deferens +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
conjunctival pigmentation 
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
CST3-related cerebral amyloid angiopathy +   
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Deafness, High-Frequency Sensorineural, X-Linked 
deafness-intellectual disability, Martin-Probst type syndrome  
Defect in Hyaluronan Metabolism 
Dilated Cardiomyopathy 3A  
Dowling-Degos disease +   
dyschromatosis symmetrica hereditaria  
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
Elejalde Disease 
Epidermodysplasia Verruciformis, X-Linked 
epidermolysis bullosa +   
epidermolytic hyperkeratosis +   
Episodic Muscle Weakness, X-Linked 
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia 
External Ophthalmoplegia and Myopia 
Fabry disease +   
Familial Amyloid Polyneuropathies +   
familial visceral amyloidosis  
favism  
Fetal Akinesia Syndrome, X-Linked 
FLOTCH Syndrome 
geroderma osteodysplasticum  
glycogen storage disease VIII 
Griscelli syndrome +   
Grouped Pigmentation of the Macula 
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Hereditary Sclerosing Poikiloderma +   
Heterochromia Iridis  
Histiocytic Dermatoarthritis 
Hodgkin Disease, X-Linked Pseudoautosomal 
hyaline fibromatosis syndrome  
Hydrocephalus with Cerebellar Agenesis 
Hyperpigmentation +   
Hypertrichosis Congenital Generalized X-Linked 
Hypopigmentation +   
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
ichthyosis vulgaris +   
Intracranial Berry Aneurysm 5 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Isolated Osteopoikilosis 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leigh Syndrome, X-Linked  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
Macular Dystrophy, X-Linked +   
Macules Hereditary Congenital Hypopigmented and Hyperpigmented 
McLeod syndrome  
Meester-Loeys syndrome  
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephaly Microcornea Syndrome Seemanova Type 
Midline Defects, X-Linked 
monilethrix +   
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Multiple Pterygium Syndrome, X-Linked 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NEMO Mutation with Immunodeficiency 
neonatal jaundice +   
Neural Tube Defects X-Linked 
Nystagmus 5, Infantile Periodic Alternating 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculotrichodysplasia 
Ogden syndrome  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
orofaciodigital syndrome IX  
ovarian dysgenesis 2  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pigmented Purpuric Eruption 
plasminogen deficiency type I  
poikiloderma with neutropenia  
porokeratosis +   
Precocious Graying of Hair 
Premature Ovarian Failure 2a  
primary cutaneous amyloidosis +   
Progressive Muscular Dystrophy, Pectorodorsal 
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
pseudoxanthoma elasticum +   
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Red Skin Pigment Anomaly of New Guinea 
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
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  
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 
split hand-foot malformation 2 
Spondylometaphyseal Dysplasia, X-Linked 
stiff skin syndrome  
Storm Syndrome 
stromal corneal pigmentation 
Surfactant Metabolism Dysfunction, Pulmonary, 4  
Symmetric Acroleukopathy  
syndromic microphthalmia 13  
Tang Hsi Ryu Syndrome 
TARP syndrome  
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
trichothiodystrophy +   
urticaria pigmentosa  
Vasquez Hurst Sotos Syndrome 
VEXAS 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 Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Hypogammaglobulinemia  
X-linked hypoparathyroidism 
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 panhypopituitarism  
X-linked recessive disease +   
X-linked reticulate pigmentary disorder  
A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in POLA1 on chromosome Xp22.1-p21.3. (DO)
X-linked retinitis pigmentosa and sinorespiratory infections  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
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 ;   Partington disease ;   X-linked reticulate pigmentary disorder with systemic manifestations ;   XLPDR ;   familial cutaneous amyloidosis ;   reticulate pigmentary disorder with systemic manifestations
Primary IDs: MESH:C564461
Alternate IDs: OMIM:301220
Xrefs: ORDO:85453
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/27019227 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.