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hair defect with photosensitivity and intellectual disability syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hair defect with photosensitivity and intellectual disability syndrome
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Accession:EFO:MONDO:0022316 term browser browse the term
Definition:Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.
Synonyms:exact_synonym: Calderon Gonzalez-Cantu syndrome;   Calderón-González-Cantu syndrome;   hair defect-photosensitivity-intellectual disability syndrome;   http://identifiers.org/medgen/383868;   http://identifiers.org/mesh/C537628;   http://identifiers.org/snomedct/721007005;   http://linkedlifedata.com/resource/umls/id/C1856241;   https://omim.org/entry/234030
 related_synonym: hair defect with photosensitivity and intellectual disability;   hair defect with photosensitivity and mental retardation;   kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability;   kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation
 alt_id: MONDO:0022316
 xref: MEDGEN:383868;   MESH:C537628;   MIM:234030;   ORDO:1408;   SCTID:721007005;   UMLS:C1856241

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