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Ontology Browser

Term:
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia (DOID:9000272)
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Parent Terms Term With Siblings Child Terms
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 
Agammaglobulinemia, X-Linked, Type 2  
Aicardi syndrome 
Akaba Hayasaka Syndrome 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 16 
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia 1 +   
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Arthrogryposis, X-Linked, Type V 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
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 +   
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cardiac Valvular Dysplasia, X-Linked  
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  
CHILD Syndrome  
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 Xp11.23-p11.22 duplication syndrome 
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 Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Idiopathic Intestinal Pseudoobstruction  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Ptosis, Hereditary 2 
Corpus Callosum, Partial Agenesis of, X-Linked  
Craniofacioskeletal Syndrome 
Czech Dysplasia, Metatarsal Type  
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  
Desbuquois dysplasia +   
diastrophic dysplasia +   
Dilated Cardiomyopathy 3A  
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Dyschondrosteosis and Nephritis 
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
Eiken Skeletal Dysplasia  
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 
Erythropoietic Protoporphyria, X-Linked Dominant  
External Ophthalmoplegia and Myopia 
Fabry disease +   
Fairbank Disease 
favism  
Faye-Petersen Ward Carey Syndrome 
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fraser Jequier Chen Syndrome 
Frontometaphyseal Dysplasia +   
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  
Hypogammaglobulinemia, X-Linked  
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Idiopathic Short Stature, 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  
Keipert Syndrome  
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
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 
Linear Skin Defects with Multiple Congenital Anomalies 3  
Liver Glycogenosis, X-Linked, Type II 
Lowry Wood Syndrome  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macular Dystrophy, X-Linked +   
Madelung Deformity 
Maffucci syndrome 
major affective disorder 2 
Marshall syndrome +   
Membranoproliferative Glomerulonephritis, X-Linked 
MEND Syndrome  
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 with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
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 
Microphthalmia, Syndromic 7  
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 
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  
NEMO Mutation with Immunodeficiency 
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
Nievergelt Syndrome 
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
Ollier disease  
omodysplasia +   
Opitz GBBB Syndrome, Type I  
Opsismodysplasia  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
osteoglophonic dysplasia  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
ovarian dysgenesis 2  
Parkinson's Disease 12 
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 with Syndactyly, Cleft Palate and Developmental Delay  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Phosphoglycerate Kinase 1 Deficiency  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Premature Ovarian Failure 2a  
Progressive Hearing Loss Stapes Fixation  
Progressive Muscular Dystrophy, Pectorodorsal 
progressive pseudorheumatoid arthropathy of childhood  
Properdin Deficiency, X-Linked  
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
pseudoachondroplasia  
Pubic Bone Dysplasia 
pycnodysostosis  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
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  
Severe Congenital Neutropenia, X-Linked  
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 
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
Spinocerebellar Ataxia, X-Linked, 3 
split hand-foot malformation 2 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia, X-Linked  
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 congenital joint dislocations  
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, Maroteaux 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 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod 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, Kozlowski 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  
Teebi Naguib Al Awadi syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia 1  
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
Thrombocytosis, Familial X-Linked 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
VACTERL/VATER Association with Hydrocephalus  
Vasquez Hurst Sotos Syndrome 
Verloes Van Maldergem Marneffe Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Von Willebrand Disease, X-Linked Form 
Weissenbacher-Zweymuller syndrome +   
Wells Jankovic Syndrome 
Wolcott-Rallison syndrome  
Worth's 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 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 distal spinal muscular atrophy 3  
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 hypoparathyroidism 
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 Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
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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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.