Ontology Browser

Term:
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia (DOID:9009020)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
brachydactyly +     
hydrocephalus +     
microphthalmia +     
Aase Smith Syndrome 
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 +   
Acropectorovertebral Dysplasia 
Adams Nance Syndrome 
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 +   
Anemia, X-Linked, without Thrombocytopenia 
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Arhinia, Choanal Atresia, and Microphthalmia  
Arthrogryposis, X-Linked, Type V 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
Aughton Syndrome 
Auriculoosteodysplasia 
Baker Vinters Syndrome 
Ballard syndrome 
Beemer Ertbruggen Syndrome 
Behrens Baumann Dust Syndrome 
Berk-Tabatznik Syndrome 
Blount's disease 
Boomerang dysplasia  
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 
Bork Stender Schmidt Syndrome 
Bornholm Eye Disease 
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type A3 
brachydactyly type A4  
Brachydactyly Type A5 Nail Dysplasia 
brachydactyly type A6 
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type C  
brachydactyly type D  
Brachydactyly with Hypertension  
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Long-Thumb Type 
Brachydactyly, Type A2, With Microcephaly 
Brachydactyly, Type E +   
Brachydactyly-Nystagmus-Cerebellar Ataxia 
brachydactyly-preaxial hallux varus syndrome 
brachydactyly-syndactyly syndrome  
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 
Clark-Baraitser Syndrome 
Cleft Palate with Ankyloglossia  
cleidocranial dysplasia +   
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly  
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS Syndrome  
Cole-Carpenter syndrome +   
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
combined T cell and B cell immunodeficiency +   
communicating hydrocephalus +   
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 Myopathy, with Fiber-Type Disproportion, X-Linked 
Congenital Ptosis, Hereditary 2 
Corpus Callosum, Partial Agenesis of, X-Linked  
Craniofacioskeletal Syndrome 
Cryptomicrotia Brachydactyly Syndrome 
cystic kidney disease with ventriculomegaly  
Czech Dysplasia, Metatarsal Type  
Daentl Towsend Siegel Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
De Hauwere syndrome 
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  
Digital Arthropathy-Brachydactyly, Familial  
Dilated Cardiomyopathy 3A  
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Duker Weiss Siber syndrome 
Dyschondrosteosis and Nephritis 
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
Ectodermal Dysplasia 1, Anhidrotic +   
Edinburgh Malformation Syndrome 
Ehlers-Danlos Syndrome Type 5 
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
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 
Familial Exudative Vitreoretinopathy, X-Linked Recessive  
favism  
Faye-Petersen Ward Carey Syndrome 
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fibular Aplasia Ectrodactyly 
fibular hypoplasia and complex brachydactyly  
Fitzsimmons-Guilbert Syndrome  
Fraser Jequier Chen Syndrome 
Frontometaphyseal Dysplasia +   
Frontonasal Dysplasia 3  
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Ghosal Hematodiaphyseal Dysplasia  
Ghose Sachdev Kumar Syndrome 
glycogen storage disease VIII 
GOMBO Syndrome 
Grange Syndrome  
Greenberg Dysplasia  
HEART AND BRAIN MALFORMATION SYNDROME  
Heart-Hand Syndrome, Spanish Type 
Hip Dysplasia, Beukes Type  
Hirschsprung Disease Type d Brachydactyly 
Hittner Hirsch Kreh Syndrome 
Hodgkin Disease, X-Linked Pseudoautosomal 
Holoprosencephaly 10 
Hydrocephalus with Cerebellar Agenesis 
Hydrocephalus, Autosomal Dominant 
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
hydrolethalus syndrome +   
Hyperostosis Frontalis Interna +  
Hypertrichosis Congenital Generalized X-Linked 
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
Hypogammaglobulinemia, X-Linked  
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
Hypoparathyroidism, X-Linked 
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 
Iris Dysplasia Hypertelorism Deafness 
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 4  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 7  
isolated microphthalmia 8  
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
Isolated Microphthalmia with Coloboma +   
Isolated Microphthalmia with Coloboma 1 
Isolated Microphthalmia with Corectopia 
Isolated Noncompaction of the Ventricular Myocardium +   
Jequier Kozlowski Skeletal Dysplasia 
Kaplowitz Bodurtha syndrome 
Kashin-Beck Disease  
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Kumar Levick 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 
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
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  
Macrosomia with Lethal Microphthalmia 
Macular Dystrophy, X-Linked +   
Madelung Deformity 
Maffucci syndrome 
major affective disorder 2 
Marshall Syndrome +   
Matthew-Wood syndrome  
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
megalocornea +   
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 with Maxillary Hypoplasia with or without Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly Microphthalmos Blindness 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly-Micromelia Syndrome  
Microcornea Corectopia Macular Hypoplasia 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microgastria Limb Reduction Defect 
Micromelic Dwarfism Fryns Type 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 1  
Microphthalmia, Syndromic 10 
Microphthalmia, Syndromic 11  
Microphthalmia, Syndromic 12  
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 2  
Microphthalmia, Syndromic 3  
Microphthalmia, Syndromic 4 
Microphthalmia, Syndromic 5  
Microphthalmia, Syndromic 6  
Microphthalmia, Syndromic 7  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
midface dysplasia 
Midline Defects, X-Linked 
Miura type epiphyseal chondrodysplasia  
Mononen-Karnes-Senac syndrome 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Multiple Pterygium Syndrome, X-Linked 
Multiple Synostoses Syndrome 1  
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  
Nanophthalmos 1 
Nanophthalmos 2  
Nanophthalmos 3 
Nanophthalmos 4  
Nasodigitoacoustic Syndrome  
NEMO Mutation with Immunodeficiency 
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
Nievergelt Syndrome 
Nonsyndromic Hydrocephalus, Autosomal Recessive 2  
normal pressure hydrocephalus +   
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
obstructive hydrocephalus  
Oculodentoosseous Dysplasia Recessive 
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 Dwarfism  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
ovarian dysgenesis 2  
Palmer Pagon Syndrome 
Parkinson's Disease 12 
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Phosphoglycerate Kinase 1 Deficiency  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Posthemorrhagic Hydrocephalus  
Prata Libéral Gonçalves Syndrome 
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  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
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  
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 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
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 Cohen-Addad Lambert Syndrome 
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  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Sillence Syndrome 
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 
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 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Spondyloepimetaphyseal Dysplasia with Joint Laxity +   
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Spondyloepimetaphyseal Dysplasia, Irapa Type 
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related  
Spondyloepimetaphyseal Dysplasia, Shohat Type  
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, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
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 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stuve-Wiedemann Syndrome  
Sugarman brachydactyly +  
Surfactant Metabolism Dysfunction, Pulmonary, 4  
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 
Teebi Naguib Al Awadi syndrome 
temtamy preaxial brachydactyly syndrome  
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
thanatophoric dysplasia +   
Thomas Jewett Raines Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia 1  
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
Thrombocytosis, Familial X-Linked 
Thyroxine-Binding Globulin Deficiency +   
Tonoki Syndrome 
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar/Fibular Ray Defect and Brachydactyly  
Upington Disease 
VACTERL/VATER Association with Hydrocephalus  
Vasquez Hurst Sotos Syndrome 
Ventriculomegaly With Defects Of The Radius And Kidney 
Verloes Van Maldergem Marneffe Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Von Willebrand Disease, X-Linked Form 
Waaler Aarskog Syndrome 
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 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 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 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 
Yim Ebbin Syndrome 

Synonyms
Primary IDs: OMIM:300863 ;   RDO:9000231

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