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Ontology Browser
Term:
glycosylphosphatidylinositol biosynthesis defect 16 (DOID:0081223)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
autosomal recessive intellectual developmental disorder 1  
autosomal recessive intellectual developmental disorder 10/20 
autosomal recessive intellectual developmental disorder 11 
autosomal recessive intellectual developmental disorder 12  
autosomal recessive intellectual developmental disorder 13  
autosomal recessive intellectual developmental disorder 14  
autosomal recessive intellectual developmental disorder 16 
autosomal recessive intellectual developmental disorder 18  
autosomal recessive intellectual developmental disorder 2  
autosomal recessive intellectual developmental disorder 23 
autosomal recessive intellectual developmental disorder 24  
autosomal recessive intellectual developmental disorder 25 
autosomal recessive intellectual developmental disorder 27  
autosomal recessive intellectual developmental disorder 28 
autosomal recessive intellectual developmental disorder 29 
autosomal recessive intellectual developmental disorder 3  
autosomal recessive intellectual developmental disorder 30 
autosomal recessive intellectual developmental disorder 31 
autosomal recessive intellectual developmental disorder 33 
autosomal recessive intellectual developmental disorder 34  
autosomal recessive intellectual developmental disorder 35 
autosomal recessive intellectual developmental disorder 37  
autosomal recessive intellectual developmental disorder 38  
autosomal recessive intellectual developmental disorder 39  
autosomal recessive intellectual developmental disorder 4 
autosomal recessive intellectual developmental disorder 40  
autosomal recessive intellectual developmental disorder 41  
autosomal recessive intellectual developmental disorder 43  
autosomal recessive intellectual developmental disorder 44  
autosomal recessive intellectual developmental disorder 45  
autosomal recessive intellectual developmental disorder 46  
autosomal recessive intellectual developmental disorder 47  
autosomal recessive intellectual developmental disorder 48  
autosomal recessive intellectual developmental disorder 5  
autosomal recessive intellectual developmental disorder 50  
autosomal recessive intellectual developmental disorder 51  
autosomal recessive intellectual developmental disorder 52  
autosomal recessive intellectual developmental disorder 54  
autosomal recessive intellectual developmental disorder 56  
autosomal recessive intellectual developmental disorder 57  
autosomal recessive intellectual developmental disorder 58  
autosomal recessive intellectual developmental disorder 59  
autosomal recessive intellectual developmental disorder 6  
autosomal recessive intellectual developmental disorder 60  
autosomal recessive intellectual developmental disorder 61  
autosomal recessive intellectual developmental disorder 63  
autosomal recessive intellectual developmental disorder 64  
autosomal recessive intellectual developmental disorder 65  
autosomal recessive intellectual developmental disorder 66  
autosomal recessive intellectual developmental disorder 67  
autosomal recessive intellectual developmental disorder 68  
autosomal recessive intellectual developmental disorder 69  
autosomal recessive intellectual developmental disorder 7  
autosomal recessive intellectual developmental disorder 70  
autosomal recessive intellectual developmental disorder 71  
autosomal recessive intellectual developmental disorder 72  
autosomal recessive intellectual developmental disorder 73  
autosomal recessive intellectual developmental disorder 74  
autosomal recessive intellectual developmental disorder 75  
autosomal recessive intellectual developmental disorder 76  
autosomal recessive intellectual developmental disorder 77  
Autosomal Recessive Intellectual Developmental Disorder 78  
Autosomal Recessive Intellectual Developmental Disorder 79  
Autosomal Recessive Intellectual Developmental Disorder 80  
Autosomal Recessive Intellectual Developmental Disorder 81  
autosomal recessive intellectual developmental disorder 82  
autosomal recessive intellectual developmental disorder 9/26 
developmental and epileptic encephalopathy 38  
developmental and epileptic encephalopathy 55  
developmental and epileptic encephalopathy 80  
developmental and epileptic encephalopathy 95  
early onset progressive encephalopathy with brain atrophy and thin corpus callosum  
Glycosylphosphatidylinositol Biosynthesis Defect 1  
Glycosylphosphatidylinositol Biosynthesis Defect 15  
glycosylphosphatidylinositol biosynthesis defect 16  
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. (DO)
Glycosylphosphatidylinositol Biosynthesis Defect 17  
Glycosylphosphatidylinositol Biosynthesis Defect 21  
Glycosylphosphatidylinositol Biosynthesis Defect 25  
hyperphosphatasia with impaired intellectual development syndrome +   
hyperphosphatasia with impaired intellectual development syndrome 1  
hyperphosphatasia with impaired intellectual development syndrome 4  
hyperphosphatasia with impaired intellectual development syndrome 5  
infantile hypotonia with psychomotor retardation and characteristic facies-3  
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
Intellectual Developmental Disorder, Autosomal Recessive 19 
Mental Retardation, Autosomal Recessive 42  
Mental Retardation, Autosomal Recessive 53  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple congenital anomalies-hypotonia-seizures syndrome 4  
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies  
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
neurodevelopmental disorder with language delay and seizures  
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae  
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities  
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy  
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities  
neurodevelopmental disorder with poor growth and behavioral abnormalities  
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  
neurodevelopmental disorder with spastic paraplegia and microcephaly  
neurodevelopmental disorder with spasticity and poor growth  
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
Rafiq syndrome  
Sotos syndrome 3  
spastic tetraplegia, thin corpus callosum, and progressive microcephaly  

Synonyms
Exact Synonyms: Intellectual developmental disorder, autosomal recessive 62 ;   MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62 ;   MRT62
Primary IDs: MIM:617816
Alternate IDs: DOID:9009068
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/27694521/ "DO" "DO"

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