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Term:
thanatophoric dysplasia (DOID:13481)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
Aase Smith Syndrome 
Abruzzo Erickson Syndrome  
acheiropody  
achondrogenesis +   
achondrogenesis type IA  
achondrogenesis type IB  
achondrogenesis type II  
Achondrogenesis, Type 3 
Achondrogenesis, Type 4 
achondroplasia +   
Achondroplasia and Swiss Type Agammaglobulinemia 
Achondroplastic Dwarfism 
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
Acromegaloid Facial Appearance Syndrome 
acromesomelic dysplasia +   
Acromesomelic Dysplasia, Demirhan Type  
acromicric dysplasia +   
Acropectoral Syndrome 
Acropectorovertebral Dysplasia 
Adams-Oliver syndrome +   
ADULT syndrome  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Akaba Hayasaka Syndrome 
Amniotic Band Syndrome +  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Arachnodactyly +   
asphyxia neonatorum +   
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Atelosteogenesis Type 3  
Auriculoosteodysplasia 
autosomal recessive Robinow syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baby Rattle Pelvic Dysplasia 
Bagatelle Cassidy syndrome 
benign neonatal seizures +   
Beukes hip dysplasia  
Birth Injuries +   
Blount's disease 
Boomerang dysplasia  
brachydactyly +   
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia +   
Brachyolmia Type 1, Hobaek Type 
Caffey disease +   
Calabro Syndrome 
campomelic dysplasia +   
Camptobrachydactyly 
Camurati-Engelmann disease +   
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cartwright Nelson Fryns Syndrome 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
CHILD Syndrome  
CHITAYAT 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  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
cocoon syndrome  
CODAS syndrome  
Colic 
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Hyperinsulinism +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital nystagmus +   
congenital syphilis +  
congenital toxoplasmosis 
Craniomicromelic Syndrome 
Cutis Laxa-Marfanoid Syndrome 
cystic fibrosis +   
Czech Dysplasia, Metatarsal Type  
Desbuquois dysplasia +   
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
diastrophic dysplasia +   
Dyschondrosteosis and Nephritis 
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
Ectrodactyly-Polydactyly 
Ectromelia +   
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Faciocardiomelic Dysplasia, Lethal 
Fairbank Disease 
Faye-Petersen Ward Carey Syndrome 
Feingold syndrome +   
Fetal Akinesia Syndrome, X-Linked 
fetal erythroblastosis +   
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fraser Jequier Chen Syndrome 
Freire-Maia Odontotrichomelic Syndrome 
Frontometaphyseal Dysplasia +   
Frontootopalatodigital Osteodysplasia 
Fryns Syndrome 
Ghosal Hematodiaphyseal Dysplasia  
Greenberg Dysplasia  
Grubben de Cock Borghgraef Syndrome 
Hand and Foot Deformity with Flat Facies 
Hanhart Syndrome 
Heart Defects Limb Shortening 
hydrophthalmos +   
Hyperglycinemia, Transient Neonatal 
Hyperostosis Frontalis Interna +  
Hyperparathyroidism, Neonatal Severe Primary  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
Hypoglossia-Hypodactylia 
hypoparathyroidism-retardation-dysmorphism syndrome  
ichthyosis +   
Ichthyosis Tapered Fingers Midline Groove Up 
IMAGe syndrome  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Infantile Hypercalcemia +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Jequier Kozlowski Skeletal Dysplasia 
Kaplan Plauchu Fitch Syndrome 
Kashin-Beck Disease  
Kaufman oculocerebrofacial syndrome  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Kuster Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Laryngeal Atresia, Encephalocele, and Limb Deformities 
Le Marec Bracq Picaud Syndrome 
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 
Limb-Mammary Syndrome  
Lower Extremity Deformities, Congenital +   
Lowry Wood Syndrome  
Lynch Lee Murday syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Madelung Deformity 
Maffucci syndrome 
Malformation of Arms 
Marshall syndrome +   
meconium aspiration syndrome  
Meconium Ileus  
Megalodactyly  
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelia-Synostoses Syndrome 
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-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia, Syndromic 6  
midface dysplasia 
Miura type epiphyseal chondrodysplasia  
Mobius syndrome +   
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Multiple Pterygium Syndrome, X-Linked 
neonatal abstinence syndrome 
Neonatal Alloimmune Thrombocytopenia  
neonatal anemia +   
neonatal diabetes mellitus +   
Neonatal Hyperbilirubinemia +   
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 
Neonatal Inflammatory Skin and Bowel Disease +   
Neonatal Pulmonary Hypertension  
Neonatal Sepsis  
Nephrosis Deafness Urinary Tract Digital Malformation 
Neu-Laxova syndrome 1  
Nievergelt Syndrome 
Ollier disease  
omodysplasia +   
ophthalmia neonatorum 
Opsismodysplasia  
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  
Palant Cleft Palate Syndrome 
Pelvis-Shoulder Dysplasia 
Penttinen-Aula Syndrome  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
persistent fetal circulation syndrome  
Peters plus syndrome  
Pointer Syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polydactyly +   
Polydysspondyly 
postaxial acrofacial dysostosis  
Posttransfusion Purpura  
Powell Chandra Saal Syndrome 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Premature Infant Diseases +   
progressive pseudorheumatoid arthropathy of childhood  
Proteus syndrome +   
pseudoachondroplasia  
Pseudoachondroplastic Dysplasia 2 
Pubic Bone Dysplasia 
pycnodysostosis  
Radial Ray Deficiency, X-Linked 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
rapadilino syndrome  
Reardon Hall Slaney syndrome 
Renal Dysplasia - Limb Defects Syndrome 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Robinow syndrome +   
Roifman Syndrome  
Rothmund-Thomson syndrome +   
Ruzicka Goerz Anton syndrome 
SADDAN  
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Sclerema Neonatorum 
severe combined immunodeficiency +   
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature-Obesity Syndrome 
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 
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 
Spinal Dysplasia, Anhalt Type 
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation +   
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
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 
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stratton-Parker Syndrome 
Stuve-Wiedemann Syndrome  
syndactyly +   
Teebi Naguib Al Awadi syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Tetramelic Monodactyly 
Tetramelic Postaxial Oligodactyly 
thanatophoric dysplasia +   
A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracolaryngopelvic Dysplasia 
Thoracomelic Dysplasia 
Tracheobronchopathia Osteoplastica 
transient neonatal thrombocytopenia 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Hypoplasia with Mental Retardation 
umbilical hernia +   
Upington Disease 
Upper Extremity Deformities, Congenital +   
VACTERL association  
Verloes Van Maldergem Marneffe Syndrome 
Viljoen Kallis Voges Syndrome 
vitamin K deficiency bleeding  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weill-Marchesani Syndrome 3  
Weissenbacher-Zweymuller syndrome +   
Weyers Acrofacial Dysostosis  
Wolcott-Rallison syndrome  
Wolman disease +   
Worth's syndrome  
Wright Dyck Syndrome 
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: Thanatophoric Dwarfism ;   Thanatophoric Dwarfisms ;   Thanatophoric Dysplasias ;   Thanatophoric Short Stature
Primary IDs: MESH:D013796 ;   RDO:0002111
Xrefs: GARD:85 ;   ICD10CM:Q77.1 ;   NCI:C85187 ;   ORDO:1860 ;   ORDO:2655 ;   ORDO:93274 ;   ORDO:93275
Definition Sources: MESH:D013796, http://en.wikipedia.org/wiki/Thanatophoric_dysplasia, http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia

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