Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
acromicric dysplasia (DOID:0111243)
Annotations: Rat: (5) Mouse: (5) Human: (6) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
Aase Smith Syndrome 
Abruzzo-Erickson syndrome  
acheiropody  
achondrogenesis +   
achondroplasia +   
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 +   
An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. (DO)
Acropectoral Syndrome 
Acropectorovertebral Dysplasia 
Adams-Oliver syndrome +   
ADULT syndrome  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Akaba Hayasaka Syndrome 
Arachnodactyly +   
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Atelosteogenesis Type 3  
Auriculoosteodysplasia 
autosomal recessive Robinow syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bagatelle Cassidy syndrome 
Beukes hip dysplasia  
Blount's disease 
Boomerang dysplasia  
brachydactyly +   
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia +   
Brachyolmia Type 1, Hobaek Type 
Caffey disease +   
Calabro Syndrome 
calvarial doughnut lesions with bone fragility  
campomelic dysplasia +   
Camptobrachydactyly 
Camurati-Engelmann disease +   
Cardioacrofacial Dysplasia +   
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-pseudohermaphroditism syndrome  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS syndrome  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Upper Extremity Deformities +   
Craniomicromelic Syndrome 
Czech Dysplasia, Metatarsal Type  
Desbuquois dysplasia +   
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
diastrophic dysplasia +   
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
Dyschondrosteosis and Nephritis 
Ectrodactyly-Polydactyly 
Ectromelia +   
Ehlers-Danlos syndrome spondylodysplastic type 3  
Eiken syndrome  
Ellis-Van Creveld syndrome +   
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Fairbank Disease 
Familial Osteodysplasia, Anderson Type 
Faye-Petersen Ward Carey Syndrome 
Feingold syndrome +   
Fetal Akinesia Syndrome, X-Linked 
fetal encasement syndrome  
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fraser Jequier Chen Syndrome 
Freire-Maia Odontotrichomelic Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Syndrome  
Ghosal hematodiaphyseal syndrome  
Greenberg dysplasia  
Grubben de Cock Borghgraef Syndrome 
Hand and Foot Deformity with Flat Facies 
Hanhart Syndrome 
Heart Defects Limb Shortening 
Hyperostosis Frontalis Interna +  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
Hypoglossia-Hypodactylia 
hypoparathyroidism-retardation-dysmorphism syndrome  
Ichthyosis Tapered Fingers Midline Groove Up 
IMAGe syndrome  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
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  
KINSSHIP 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 
Lethal Faciocardiomelic Dysplasia 
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 +   
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, Camera 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-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface dysplasia 
Miura type epiphyseal chondrodysplasia  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Multiple Pterygium Syndrome, X-Linked 
Nephrosis Deafness Urinary Tract Digital Malformation 
Neu-Laxova syndrome 1  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
Nievergelt Syndrome 
Odontochondrodysplasia 2 with Hearing Loss and Diabetes  
Ollier disease  
omodysplasia +   
Opsismodysplasia  
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  
Palant Cleft Palate Syndrome 
parastremmatic dwarfism  
Pelvis-Shoulder Dysplasia 
Penttinen-Aula Syndrome  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Peters plus syndrome  
Pointer Syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polydactyly +   
Polydysspondyly 
postaxial acrofacial dysostosis  
Powell Chandra Saal Syndrome 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
progressive pseudorheumatoid arthropathy of childhood  
Proteus syndrome +   
pseudoachondroplasia  
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  
Ruzicka Goerz Anton syndrome 
SAPHO syndrome  
Saul-Wilson syndrome  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature-Obesity 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 
Spinal Dysplasia, Anhalt Type 
Splenogonadal Fusion with Limb Defects and Micrognathia 
split hand-foot malformation +   
Split-Foot Malformation with Mesoaxial Polydactyly  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
spondyloepiphyseal dysplasia +   
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
spondylometaphyseal dysplasia +   
Spondyloocular Syndrome, Autosomal Recessive  
spondyloperipheral dysplasia  
Spondylospinal Thoracic Dysostosis 
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stratton-Parker Syndrome 
Stuve-Wiedemann Syndrome  
syndactyly +   
syndromic microphthalmia 6  
Teebi Naguib Al Awadi syndrome 
terminal osseous dysplasia  
Tetramelic Monodactyly 
Tetramelic Postaxial Oligodactyly 
thanatophoric dysplasia +   
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracolaryngopelvic Dysplasia 
Thoracomelic Dysplasia 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Hypoplasia with Mental Retardation 
Upington Disease 
VACTERL association +   
Verloes Van Maldergem Marneffe Syndrome 
Viljoen Kallis Voges Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weill-Marchesani Syndrome 3  
Weissenbacher-Zweymuller syndrome +   
Weyers acrofacial dysostosis  
Wolcott-Rallison syndrome  
Wright Dyck Syndrome 
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: ACMICD ;   acromicric skeletal dysplasia ;   geleophysic dwarfism
Primary IDs: MESH:C535662
Alternate IDs: OMIM:102370
Xrefs: GARD:7 ;   ORDO:969
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/21683322 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3728563 "DO"

paths to the root