Ontology Browser

Term:
Dwarfism Stiff Joint Ocular Abnormalities (DOID:9005074)
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Parent Terms Term With Siblings Child Terms
Dwarfism +     
Eye Abnormalities +     
Joint Diseases +     
3-M syndrome +   
3MC syndrome 1  
Aarskog syndrome +   
ablepharon macrostomia syndrome  
Abuse Dwarfism Syndrome 
acheiropody  
achondroplasia +   
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
acromesomelic dysplasia +   
Acrootoocular Syndrome 
acrorenal syndrome +  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alopecia Contractures Dwarfism Mental Retardation 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
anauxetic dysplasia 1  
Anauxetic Dysplasia 2  
aniridia +   
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosis +   
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Anophthalmia +   
anterior segment mesenchymal dysgenesis +   
Arthralgia +   
arthritis +   
Arthrogryposis +   
arthropathy +   
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Atelosteogenesis Type 3  
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE  
Axenfeld-Rieger syndrome +   
Bangstad Syndrome 
Banki Syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Bird Headed Dwarfism Montreal Type 
blepharophimosis +   
Blue Diaper Syndrome 
Boomerang dysplasia  
Brachydactylous Dwarfism Mseleni Type 
brachydactyly type E1  
brachydactyly type E2  
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
brittle cornea syndrome +   
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
bursitis +  
Calcification of Joints and Arteries +   
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  
Cantu Sanchez-Corona Fragoso Syndrome 
Carnevale Hernandez Castillo Syndrome 
Catel Manzke Syndrome  
Chemke Oliver Mallek Syndrome 
Chitayat Meunier Hodgkinson Syndrome 
Chondrodysplasia Calcificans Metaphysealis 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
Chondromatosis, Synovial +  
chromosome 6pter-p24 deletion syndrome 
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cockayne syndrome +   
CODAS Syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
congenital hypothyroidism +   
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
Contracture +   
Coracoclavicular Joint, Anomalous 
Cranioacrofacial Syndrome 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Cryptophthalmos, Unilateral or Bilateral, Isolated  
Crystal Arthropathies +   
Daneman Davy Mancer Syndrome 
De Hauwere syndrome 
De Sanctis-Cacchione Syndrome  
Deafness, Congenital Onychodystrophy, Recessive Form 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
diastrophic dysplasia  
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant  
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Distal Symphalangism +   
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyssegmental Dysplasia with Glaucoma 
Dystelephalangy 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Lentis +   
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 
Egg-Shaped Pupil 
Eiken Skeletal Dysplasia  
Extensor Tendons of Fingers, Anomalous Insertion of 
FACES Syndrome 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Fairbank Disease 
Femoracetabular Impingement 
Femur Bifid with Monodactylous Ectrodactyly 
fibrochondrogenesis +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Flynn Aird Syndrome 
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Fraser syndrome +   
Frints De Smet Fabry Fryns Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
GEMSS Syndrome  
Gerodermia Osteodysplastica  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Goodman Camptodactyly 
Gordon Syndrome  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hadziselimovic Syndrome 
Hairy Palms and Soles 
Hallux Limitus 
Hallux Rigidus 
hand-foot-genital syndrome  
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
hemarthrosis +   
Hip Dysplasia, Beukes Type  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
hydrarthrosis 
hydrolethalus syndrome +   
hydrophthalmos +   
hypermobility syndrome 
hypochondroplasia  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
Iridogoniodysgenesis and Skeletal Anomalies 
iridogoniodysgenesis syndrome +   
isolated growth hormone deficiency +   
Johnson Munson Syndrome 
Joint Deformities, Acquired 
Joint Instability +   
Joint Loose Bodies 
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 9  
Kapur Toriello Syndrome 
Kenny-Caffey Syndrome, Type 2  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kniest dysplasia  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Laurin-Sandrow Syndrome  
Leri Pleonosteosis 
Loucks-Innes Syndrome  
Macrodactyly of the Hand 
Mammary-Digital-Nail Syndrome 
Maxillofacial Dysostosis 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metatarsalgia +  
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Michels Caskey Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly with Mental Retardation and Digital Anomalies  
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
Mollica Pavone Antener Syndrome 
MOMES Syndrome 
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
mulibrey nanism  
Muller Barth Menger Syndrome 
nail-patella syndrome +   
Nephrotic Syndrome with Ocular Anomalies 
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
Neurofaciodigitorenal Syndrome 
neurogenic arthropathy +   
Nievergelt Syndrome 
oculoauricular syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculomaxillofacial Dysostosis  
Oculootoradial Syndrome  
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Oliver-McFarlane Syndrome  
Oroacral Syndrome, Verloes-Koulischer Type 
Oslam syndrome 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Parastremmatic Dwarfism  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
patellofemoral pain syndrome 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pena Shokeir Syndrome Type 2 
persistent hyperplastic primary vitreous +   
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHACE Association 
Pierson syndrome  
Plica syndrome 
popliteal pterygium syndrome +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Prepapillary Vascular Loops 
primary hypertrophic osteoarthropathy +   
Progeroid Facial Appearance with Hand Anomalies 
progressive pseudorheumatoid arthropathy of childhood  
Proportionate Dwarfism, with Hip Dislocation 
proximal symphalangism  
Pseudodiastrophic Dysplasia 
Pseudotrisomy 13 Syndrome 
Pupillary Membrane, Persistence of 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
rapadilino syndrome  
Retinal Dysplasia +   
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
Say Field Coldwell syndrome 
Schinzel-Giedion Syndrome  
Schmid-Fraccaro Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Second Metatarsal-Metacarpal Syndrome 
secondary hypertrophic osteoarthropathy 
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Locking Fingers 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
shoulder impingement syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Singh Chhaparwal Dhanda Syndrome 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Stoll Alembik Dott Syndrome 
Stromme syndrome  
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Synovial Chondromatosis, Familial, with Dwarfism 
synovitis +   
Synpolydactyly 2  
Tabatznik Syndrome 
tarsal-carpal coalition syndrome  
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Temporomandibular Joint Disorders +   
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Thai Symphalangism Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Tollner Horst Manzke Syndrome 
torsion dystonia with onset in infancy 
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Tryptophanuria with Dwarfism 
Tukel Syndrome 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Vohwinkel Syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weill-Marchesani syndrome +   
Weill-Marchesani-Like Syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: Dwarfism with Stiff Joints and Ocular Abnormalities ;   Moore Federman syndrome
Primary IDs: MESH:C535724 ;   RDO:0001003

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