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Ontology Browser

Term:
Kniest Like Dysplasia Lethal (DOID:9005084)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Macrocephaly +     
polyhydramnios +     
Bagatelle Cassidy syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Benign Familial Macrocephaly 
chondrodysplasia Blomstrand type  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 1q21.1 deletion syndrome  
Circumvallate Placenta Syndrome 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Dermochondrocorneal Dystrophy of Fran├žois 
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 
Exostoses of Heel 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Fryns Macrocephaly 
Hemimegalencephaly +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
Intestinal Polyposis, with Multiple Exostoses 
Kniest dysplasia  
Kniest Like Dysplasia Lethal  
Luscan-Lumish syndrome  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Dysmyelination 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, X-Linked 93  
Metachondromatosis  
Metaphyseal Acroscyphodysplasia 
Multiple Exostoses Type I  
Multiple Exostoses Type II  
Multiple Exostoses Type III 
Multiple Exostoses with Spastic Tetraparesis 
Neuhauser Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Polyhydramnios, Chronic Idiopathic 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Potocki-Shaffer Syndrome 
Rambaud Galian Syndrome 
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Snijders Blok-Campeau Syndrome  
Stuve-Wiedemann Syndrome  
syndromic X-linked intellectual disability Turner type  
THAUVIN-ROBINET-FAIVRE SYNDROME  
VACTERL/VATER Association with Hydrocephalus  
Zori Stalker Williams Syndrome 

Synonyms
Exact Synonyms: Arthrosis, flat face, hypotonia, short neck and macrocephaly ;   lethal Kniest-like syndrome
Primary IDs: MESH:C537208
Alternate IDs: OMIM:245190 ;   RDO:0002997

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