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Ontology Browser

Term:
Terminal Osseous Dysplasia and Pigmentary Defects (DOID:9000162)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
Abruzzo Erickson Syndrome  
acanthosis nigricans +   
acheiropody  
achondrogenesis +   
achondroplasia +   
Achromatopsia Incomplete, X-Linked 
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
acromesomelic dysplasia +   
Acrootoocular Syndrome 
Acropectorovertebral Dysplasia 
acrorenal syndrome +  
ADULT 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 1 +   
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anonychia with Flexural Pigmentation 
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Argyria 
Arthrogryposis, X-Linked, Type V 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
Auriculoosteodysplasia 
BADS syndrome 
Banki Syndrome 
Basaran Yilmaz Syndrome  
Bloch-Sulzberger syndrome +   
Blount's disease 
Boomerang dysplasia  
Bornholm Eye Disease 
brachydactyly type E1  
brachydactyly type E2  
brachyolmia +   
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Cafe-au-Lait Spots +   
Caffey disease +   
campomelic dysplasia +   
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type 1 
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camptosynpolydactyly, Complex  
Camurati-Engelmann disease +   
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma  
CAPOS Syndrome  
Cardiac Valvular Dysplasia, X-Linked  
Carnevale Hernandez Castillo Syndrome 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
cataract 40  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Catel Manzke Syndrome  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Charcot-Marie-Tooth Disease, Foot Deformity of 
CHILD Syndrome  
Chitayat Meunier Hodgkinson 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  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS Syndrome  
Coffin-Siris syndrome +   
cold-induced sweating 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 Myopathy, with Fiber-Type Disproportion, X-Linked 
Congenital Ptosis, Hereditary 2 
conjunctival pigmentation 
Corpus Callosum, Partial Agenesis of, X-Linked  
Cranioacrofacial Syndrome 
Craniofacioskeletal Syndrome 
Craniosynostosis, Adelaide Type 
Czech Dysplasia, Metatarsal Type  
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
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  
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
Dilated Cardiomyopathy 3A  
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Distal Symphalangism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dyschondrosteosis and Nephritis 
dyschromatosis symmetrica hereditaria  
dyschromatosis universalis hereditaria +   
Dystelephalangy 
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Ehlers-Danlos Syndrome Type 5 
Eiken Skeletal Dysplasia  
Elejalde Disease 
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  
Extensor Tendons of Fingers, Anomalous Insertion of 
External Ophthalmoplegia and Myopia 
Fabry disease +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Fairbank Disease 
Familial Exudative Vitreoretinopathy, X-Linked Recessive  
favism  
Faye-Petersen Ward Carey Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
FLOTCH Syndrome 
Fraser Jequier Chen Syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontometaphyseal Dysplasia +   
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Ghosal Hematodiaphyseal Dysplasia  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
glycogen storage disease VIII 
Goodman Camptodactyly 
Gordon Syndrome  
Graying of Hair, Precocious 
Greenberg Dysplasia  
Griscelli syndrome +   
Grouped Pigmentation of the Macula 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
hand-foot-genital syndrome  
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
Heterochromia Iridis  
Hip Dysplasia, Beukes Type  
Hodgkin Disease, X-Linked Pseudoautosomal 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hydrocephalus with Cerebellar Agenesis 
hydrolethalus syndrome +   
Hyperostosis Frontalis Interna +  
Hyperpigmentation +   
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  
Hypopigmentation +   
hypopigmentation of eyelid 
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 +   
Jackson-Weiss Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johnson Munson Syndrome 
Kashin-Beck Disease  
Keipert Syndrome  
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Laurin-Sandrow Syndrome  
Leigh Syndrome, X-Linked  
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
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  
Macrodactyly of the Foot 
Macrodactyly of the Hand 
Macular Dystrophy, X-Linked +   
Macules Hereditary Congenital Hypopigmented and Hyperpigmented 
Madelung Deformity 
Maffucci syndrome 
major affective disorder 2 
Mammary-Digital-Nail Syndrome 
Marshall 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 
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
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 
Metatarsus Varus, Type I 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Michels Caskey Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly with Mental Retardation and Digital Anomalies  
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microphthalmia, Syndromic 7  
midface dysplasia 
Midline Defects, X-Linked 
Miura type epiphyseal chondrodysplasia  
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
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 
neonatal jaundice +   
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
Neurofaciodigitorenal Syndrome 
Nicolaides Baraitser Syndrome  
Nievergelt Syndrome 
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootoradial Syndrome  
Odontotrichoungual-Digital-Palmar Syndrome 
Ollier disease  
omodysplasia +   
Opitz GBBB Syndrome, Type I  
Opsismodysplasia  
Optic Atrophy 2 
ornithine carbamoyltransferase deficiency  
Oroacral Syndrome, Verloes-Koulischer Type 
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam 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  
Parkinson's Disease 12 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pfeiffer Tietze Welte Syndrome 
Phosphoglycerate Kinase 1 Deficiency  
Pigmented Purpuric Eruption 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Premature Ovarian Failure 2a  
Progeroid Facial Appearance with Hand Anomalies 
Progressive Hearing Loss Stapes Fixation  
Progressive Muscular Dystrophy, Pectorodorsal 
progressive pseudorheumatoid arthropathy of childhood  
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  
Pseudotrisomy 13 Syndrome 
Pubic Bone Dysplasia 
pycnodysostosis  
Radial Defect Robin Sequence 
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radius Absent Anogenital Anomalies 
Ray Peterson Scott Syndrome 
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 
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Roifman Syndrome  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rozin Hertz Goodman Syndrome 
Russell-Silver Syndrome, X-Linked 
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Say Field Coldwell syndrome 
Schaefer Stein Oshman Syndrome 
Schinzel-Giedion Syndrome  
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Second Metatarsal-Metacarpal Syndrome 
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 
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  
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 Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 2 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocamptodactyly 
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 
Stoll Alembik Dott Syndrome 
stromal corneal pigmentation 
Stuve-Wiedemann Syndrome  
Surfactant Metabolism Dysfunction, Pulmonary, 4  
Symmetric Acroleukopathy  
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Synpolydactyly 2  
Synpolydactyly with Foot Anomalies  
Tabatznik Syndrome 
Talipes +   
Talonavicular Coalition 
Tang Hsi Ryu Syndrome 
Tarsal Coalition 
tarsal-carpal coalition syndrome  
Teebi Kaurah Syndrome 
Teebi Naguib Al Awadi syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly 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 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
Thyroxine-Binding Globulin Deficiency +   
Tollner Horst Manzke Syndrome 
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Tukel Syndrome 
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Upington Disease 
urticaria pigmentosa  
VACTERL/VATER Association with Hydrocephalus  
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verloes Van Maldergem Marneffe Syndrome 
Vertical Talus, Congenital  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vohwinkel Syndrome  
Von Willebrand Disease, X-Linked Form 
Waardenburg Syndrome Type 4 +   
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weissenbacher-Zweymuller syndrome +   
Wells Jankovic Syndrome 
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Whyte Murphy 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 
xeroderma pigmentosum +   
yellow nail syndrome +  
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: ODPD ;   ODPF ;   ODPF syndrome ;   TOD ;   TODPD ;   osseous dysplasia, digital, with facial pigmentary defects and multiple frenula ;   terminal osseous dysplasia
Primary IDs: MESH:C564554
Alternate IDs: OMIM:300244 ;   RDO:0008567 ;   RDO:0013479

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