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Ontology Browser

Term:
Hyperphosphatasia with Mental Retardation Syndrome 1 (DOID:9002100)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Acrootoocular Syndrome 
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
Bagatelle Cassidy syndrome 
Barber-Say syndrome  
Brachycephalofrontonasal Dysplasia  
Camptodactyly Syndrome, Guadalajara, Type II 
Camptodactyly Syndrome, Guadalajara, Type III 
chromosome 6pter-p24 deletion syndrome 
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Frontonasal Dysplasia 1  
Frontonasal Dysplasia 2  
Frontonasal Dysplasia 3  
Gastrocutaneous Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
Hamamy Syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hyperphosphatasia with Mental Retardation Syndrome 1  
Hyperphosphatasia with Mental Retardation Syndrome 2  
Hyperphosphatasia with Mental Retardation Syndrome 3  
Hyperphosphatasia with Mental Retardation Syndrome 4  
Hyperphosphatasia with Mental Retardation Syndrome 5  
Hyperphosphatasia with Mental Retardation Syndrome 6  
Hypertelorism and Tetralogy of Fallot 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
Krauss Herman Holmes Syndrome 
Marles Greenberg Persaud Syndrome  
Naguib-Richieri-Costa Syndrome 
Opitz-GBBB syndrome +   
Roberts syndrome  
Santos Mateus Leal Syndrome 
Schwartz-Lelek Syndrome  
Seaver Cassidy Syndrome 
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations  

Synonyms
Exact Synonyms: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 ;   GPIBD2 ;   HPMRS1 ;   HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 1 ;   Mabry syndrome
Primary IDs: OMIM:239300
Alternate IDs: RDO:0008328

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