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Ontology Browser
Term:
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (DOID:0112106)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
brachydactyly +     
hydrocephalus +     
microphthalmia +     
X-linked chondrodysplasia punctata 2 +     
Aase Smith Syndrome 
acrocapitofemoral dysplasia  
Adams Nance Syndrome 
Arhinia, Choanal Atresia, and Microphthalmia  
Aughton Syndrome 
Baker Vinters Syndrome 
Ballard syndrome 
Beemer Ertbruggen Syndrome 
Behrens Baumann Dust Syndrome 
Berk-Tabatznik Syndrome 
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 
Bork Stender Schmidt Syndrome 
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, Coloboma, and Anterior Segment Dysgenesis 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Long-Thumb Type 
Brachydactyly, Type E +   
Brachydactyly-Nystagmus-Cerebellar Ataxia 
brachydactyly-preaxial hallux varus syndrome 
brachydactyly-syndactyly syndrome  
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
cataract 40  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. (DO)
Clark-Baraitser syndrome  
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 
Cole-Carpenter syndrome +   
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula with Type B Brachydactyly 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
communicating hydrocephalus +   
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies  
Congenital Hydrocephalus 3, with Brain Anomalies  
Congenital Hydrocephalus 5  
Cryptomicrotia-Brachydactyly Syndrome 
Daentl Towsend Siegel Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
De Hauwere syndrome  
Digital Arthropathy-Brachydactyly, Familial  
Duker Weiss Siber syndrome 
Edinburgh Malformation Syndrome 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Fibular Aplasia Ectrodactyly 
fibular hypoplasia and complex brachydactyly  
Fitzsimmons-Guilbert Syndrome 
frontonasal dysplasia 3  
Game-Friedman-Paradice Syndrome 
GARG-MISHRA PROGEROID SYNDROME  
Ghose Sachdev Kumar Syndrome 
GOMBO Syndrome 
Grange Syndrome  
HEART AND BRAIN MALFORMATION SYNDROME  
heart-hand syndrome type 3 
Hittner Hirsch Kreh Syndrome  
Holoprosencephaly 10  
Hydrocephalus with Cerebellar Agenesis 
Hydrocephalus, Autosomal Dominant 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
hydrolethalus syndrome +   
hypertension and brachydactyly syndrome  
Iris Dysplasia Hypertelorism Deafness 
isolated microphthalmia +   
Kaplowitz Bodurtha syndrome 
Kozlowski Brown Hardwick Syndrome 
Kumar Levick Syndrome 
Macrosomia with Lethal Microphthalmia 
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
Microcephaly Microphthalmos Blindness 
Microcornea Corectopia Macular Hypoplasia 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microgastria Limb Reduction Defect 
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  
Mononen-Karnes-Senac syndrome 
multiple synostoses syndrome 1  
nanophthalmos +   
normal pressure hydrocephalus +   
obstructive hydrocephalus  
Oculodentodigital Dysplasia, Autosomal Recessive  
optic disc anomalies with retinal and/or macular dystrophy  
OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS  
Palmer Pagon Syndrome 
Posthemorrhagic Hydrocephalus  
Prata Libéral Gonçalves Syndrome 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 
Radius Absent Anogenital Anomalies 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Schwartz Cohen-Addad Lambert Syndrome 
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Sillence Syndrome 
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 
Sugarman brachydactyly 
syndromic microphthalmia +   
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 
temtamy preaxial brachydactyly syndrome  
Thomas Jewett Raines Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Tonoki Syndrome 
Ulnar/Fibular Ray Defect and Brachydactyly  
ventriculomegaly - cystic kidney disease  
Ventriculomegaly with Defects of the Radius and Kidney 
Waaler Aarskog Syndrome 
X-Linked Hydrocephalus +   
X-linked VACTERL association  
Yim Ebbin Syndrome 

Synonyms
Exact Synonyms: X-linked dominant chondrodysplasia, Chassaing-Lacombe type ;   X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Broad Synonyms: HDAC6-related condition
Xrefs: MIM:300863 ;   MONDO:0010463 ;   ORDO:163966
Definition Sources: PMID:16001442 "DO" "DO"

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