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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:alopecia-epilepsy-pyorrhea-intellectual disability syndrome
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Accession:EFO:MONDO:0007085 term browser browse the term
Definition:Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
Synonyms:exact_synonym: Orphanet:1008;   Shokeir syndrome;   http://identifiers.org/medgen/350833;   http://identifiers.org/mesh/C537057;   http://identifiers.org/snomedct/720980004;   http://linkedlifedata.com/resource/umls/id/C1863090;   https://omim.org/entry/104130
 related_synonym: alopecia, epilepsy, pyorrhea, mental subnormality;   alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality;   congenital universal alopecia, epilepsy, mental subnormality and pyorrhea
 alt_id: MONDO:0007085
 xref: GARD:607;   MEDGEN:350833;   MESH:C537057;   MIM:104130;   ORDO:1008;   SCTID:720980004;   UMLS:C1863090


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