loading...| Preferred Name | Miller-Dieker lissencephaly syndrome | |
| Synonyms |
chromosome 17P13.3 deletion syndrome Miller-Dieker syndrome chromosome region MDLS Miller-Dieker syndrome Miller-Dieker lissencephaly syndrome lissencephaly due to 17p13.3 deletion telomeric deletion 17p monosomy 17p13.3 |
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| Definitions |
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009532 |
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| database_cross_reference |
DECIPHER:21 NCIT:C124852 MedDRA:10068361 NANDO:1201083 Orphanet:531 MEDGEN:78538 OMIM:247200 SCTID:253148005 UMLS:C0265219 ICD9:758.33 DOID:0060469 GARD:3669 |
|
| definition |
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. |
|
| has_exact_synonym |
Miller-Dieker syndrome Miller-Dieker lissencephaly syndrome lissencephaly due to 17p13.3 deletion telomeric deletion 17p monosomy 17p13.3 |
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| has_related_synonym |
chromosome 17P13.3 deletion syndrome Miller-Dieker syndrome chromosome region MDLS |
|
| id |
MONDO:0009532 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Miller-Dieker lissencephaly syndrome |
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| notation |
MONDO:0009532 |
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| preferred label |
Miller-Dieker lissencephaly syndrome |
|
| prefLabel |
Miller-Dieker lissencephaly syndrome |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0060469 http://linkedlifedata.com/resource/umls/id/C0265219 http://identifiers.org/medgen/78538 http://purl.obolibrary.org/obo/NCIT_C124852 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0022754 |
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| excluded_subClassOf |