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Term:
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia (DOID:9000272)
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Parent Terms Term With Siblings Child Terms
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
acheiropody  
achondrogenesis +   
achondroplasia +   
Achromatopsia Incomplete, X-Linked 
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acropectorovertebral Dysplasia 
Aicardi syndrome 
Akaba Hayasaka Syndrome 
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
AMME complex  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Arthrogryposis, X-Linked, Type V 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Auriculoosteodysplasia 
Beukes hip dysplasia  
Blount's disease 
Boomerang dysplasia  
Bornholm Eye Disease 
brachyolmia +   
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Caffey disease +   
calvarial doughnut lesions with bone fragility  
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
cataract 40  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
chondrodysplasia with joint dislocations gPAPP type  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
Choroideremia +   
Chromosome Xq28 Duplication Syndrome 
Cleft Palate with Ankyloglossia  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS syndrome  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
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 Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
Czech Dysplasia, Metatarsal Type  
Deafness, High-Frequency Sensorineural, X-Linked 
deafness-intellectual disability, Martin-Probst type syndrome  
Desbuquois dysplasia +   
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
diastrophic dysplasia +   
Dilated Cardiomyopathy 3A  
Dyschondrosteosis and Nephritis 
Ehlers-Danlos syndrome spondylodysplastic type 3  
Eiken syndrome  
Ellis-Van Creveld syndrome +   
Epidermodysplasia Verruciformis, X-Linked 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
Fabry disease +   
Fairbank Disease 
Familial Osteodysplasia, Anderson Type 
favism  
Faye-Petersen Ward Carey Syndrome 
Fetal Akinesia Syndrome, X-Linked 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fraser Jequier Chen Syndrome 
Frontootopalatodigital Osteodysplasia 
Ghosal Hematodiaphyseal Dysplasia  
glycogen storage disease VIII 
Greenberg dysplasia  
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hyperostosis Frontalis Interna +  
Hypertrichosis Congenital Generalized X-Linked 
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
IMAGe syndrome  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intracranial Berry Aneurysm 5 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Jequier Kozlowski Skeletal Dysplasia 
Kashin-Beck Disease  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Leigh Syndrome, X-Linked  
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Lowry Wood Syndrome  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Madelung Deformity 
Maffucci syndrome 
Marshall syndrome +   
McLeod syndrome  
Meester-Loeys syndrome  
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Midline Defects, X-Linked 
Miura type epiphyseal chondrodysplasia  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Multiple Pterygium Syndrome, X-Linked 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NEMO Mutation with Immunodeficiency 
Neural Tube Defects X-Linked 
Nievergelt Syndrome 
Nystagmus 5, Infantile Periodic Alternating 
Ogden syndrome  
Ollier disease  
omodysplasia +   
Opsismodysplasia  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
osteogenesis imperfecta +   
osteoglophonic dysplasia  
osteosclerosis +   
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia, autosomal recessive  
ovarian dysgenesis 2 +   
parastremmatic dwarfism  
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Pelvis-Shoulder Dysplasia 
Periventricular Laminar Heterotopia 
Periventricular Nodular Heterotopia 2  
Periventricular Nodular Heterotopia 3 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia 5 
Periventricular Nodular Heterotopia 6  
Periventricular Nodular Heterotopia 7  
Periventricular Nodular Heterotopia 8  
Periventricular Nodular Heterotopia 9  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
primary ovarian insufficiency 1  
primary ovarian insufficiency 4 
Progressive Muscular Dystrophy, Pectorodorsal 
progressive pseudorheumatoid arthropathy of childhood  
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
pseudoachondroplasia  
Pubic Bone Dysplasia 
pycnodysostosis  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Roifman Syndrome  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
SAPHO syndrome  
Saul-Wilson syndrome  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Selective Tooth Agenesis, X-Linked, 1  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Silverman-Handmaker type dyssegmental dysplasia  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slipped Capital Femoral Epiphyses 
Spina Bifida, X-Linked 
Spinal Dysplasia, Anhalt Type 
split hand-foot malformation 2 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
spondyloepiphyseal dysplasia Maroteaux type  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Kondo-Fu Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondyloepiphyseal Dysplasia, Nishimura Type  
Spondyloepiphyseal Dysplasia, Stanescu Type  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Corneal Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
spondyloperipheral dysplasia  
Spondylospinal Thoracic Dysostosis 
Stuve-Wiedemann Syndrome  
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic microphthalmia 13  
TARP syndrome  
Teebi Naguib Al Awadi syndrome 
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Vasquez Hurst Sotos Syndrome 
Verloes Van Maldergem Marneffe Syndrome 
VEXAS syndrome  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Von Willebrand Disease, X-Linked Form 
Weissenbacher-Zweymuller syndrome +   
Wells Jankovic Syndrome 
Wolcott-Rallison syndrome  
Worth syndrome  
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
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 Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Macular Dystrophy +   
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked panhypopituitarism  
X-linked recessive disease +   
X-linked reticulate pigmentary disorder  
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 

Synonyms
Primary IDs: MESH:C564725
Alternate IDs: RDO:0013590

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