loading...| Preferred Name |
Rett Syndrome |
| Synonyms |
Hyperammonemias, Cerebroatrophic |
| Definitions |
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) |
| ID |
http://purl.bioontology.org/ontology/MESH/D015518 |
| altLabel |
Hyperammonemias, Cerebroatrophic Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use Syndrome, Rett Cerebroatrophic Hyperammonemia Cerebroatrophic Hyperammonemias Syndrome, Rett's Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome Hyperammonemia, Cerebroatrophic Rett's Syndrome Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome Rett's Disorder Retts Syndrome Rett Disorder |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0035372 |
| DC |
1 |
| definition |
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) |
| DX |
19900101 |
| FX |
D008607 |
| HN |
90 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
90 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567442 |
| MDA |
19890407 |
| MMR |
20180630 |
| MN |
C16.320.322.500.937 C16.320.400.525.937 C10.597.606.360.455.937 |
| notation |
D015518 |
| prefLabel |
Rett Syndrome |
| TERMUI |
T372087 T372086 T046005 T046006 T782107 T372088 T372089 |
| TH |
NLM (1990) NLM (2000) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |