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Term:
Gillessen-Kaesbach-Nishimura Dysplasia (DOID:9001306)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3MC syndrome 1  
Absence of Tibia +   
acrocephalosyndactylia +   
Acrootoocular Syndrome 
Al Awadi Syndrome  
Amelia and Terminal Transverse Hemimelia 
Amelia, Autosomal Recessive 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
Aurocephalosyndactyly 
Bagatelle Cassidy syndrome 
Baller-Gerold syndrome  
Baraitser Rodeck Garner syndrome 
Barber-Say syndrome  
Beare-Stevenson cutis gyrata syndrome  
Bohring Syndrome  
Brachycephalofrontonasal Dysplasia  
Brachycephaly, Trichomegaly, and Developmental Delay  
Calabro Syndrome 
Camptodactyly Syndrome, Guadalajara, Type II 
Camptodactyly Syndrome, Guadalajara, Type III 
chromosome 6pter-p24 deletion syndrome 
Cole-Carpenter syndrome +   
congenital disorder of glycosylation type I +   
congenital disorder of glycosylation type II +   
Congenital Disorder of Glycosylation with Defective Fucosylation +   
Congenital Disorder of Glycosylation, Type I/IIx 
Craniosynostosis 2  
Craniosynostosis 3  
Craniosynostosis 4  
Craniosynostosis 5  
Craniosynostosis 6  
Craniosynostosis 7  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Anomalies of the Cranial Base and Digits 
Craniosynostosis with Ectopia Lentis 
Craniosynostosis with Fibular Aplasia 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Craniosynostosis, Anal Anomalies, and Porokeratosis 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis, Philadelphia Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Craniotelencephalic Dysplasia 
Crouzon syndrome +   
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome 
DK Phocomelia Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Fine-Lubinsky Syndrome 
Frontonasal Dysplasia 1  
Frontonasal Dysplasia 2  
Frontonasal Dysplasia 3  
Gastrocutaneous Syndrome 
Genoa Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hordnes Engebretsen Knudtson syndrome 
Hunter-McAlpine Syndrome 
Hyperphosphatasia with Mental Retardation Syndrome 1  
Hypertelorism and Tetralogy of Fallot 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility  
Hypoplasia of Tibia with Polydactyly  
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
Iida Kannari Syndrome 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
Jackson-Weiss Syndrome  
Johnson Munson Syndrome 
Kleeblattschaedel Syndrome 
Krauss Herman Holmes Syndrome 
Laurin-Sandrow Syndrome  
Loeys-Dietz syndrome +   
Lowry Maclean syndrome 
Marles Greenberg Persaud Syndrome  
Mehta Lewis Patton Syndrome 
Muenke syndrome  
Naguib-Richieri-Costa Syndrome 
NGLY1-deficiency  
Nonsyndromic Trigonocephaly +   
Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 
Ohdo syndrome +   
Opitz Trigonocephaly Syndrome  
Opitz-GBBB syndrome +   
Pfeiffer Tietze Welte Syndrome 
Piepkorn Karp Hickok syndrome 
Plagiocephaly and X-Linked Mental Retardation 
polycystic kidney disease 4  
polycystic kidney disease 5  
Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 
Renal Dysplasia Diffuse Cystic  
Richieri Costa Da Silva Syndrome 
Roberts syndrome  
Rudd Klimek Syndrome 
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Santos Mateus Leal Syndrome 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
Schwartz-Lelek Syndrome  
Seaver Cassidy Syndrome 
Selig Benacerraf Greene Syndrome 
Sensenbrenner syndrome +   
Shprintzen Golberg Craniosynostosis  
Skeletal Dysplasia, San Diego Type 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tetraamelia Multiple Malformations 
Tetraamelia Syndrome 1  
Tetraamelia Syndrome 2  
Tetraphocomelia-Thrombocytopenia Syndrome 
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
X-Linked Tetra-Amelia 
Yim Ebbin Syndrome 

Synonyms
Exact Synonyms: GIKANIS ;   Gillessen-Kaesbach-Nishimura skeletal dysplasia ;   Gillessen-Kaesbach-Nishimura syndrome ;   POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA ;   polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia
Primary IDs: MESH:C564881
Alternate IDs: OMIM:263210 ;   RDO:0013697 ;   RDO:9000745

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