Potocki-Luspski syndrome
chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has material basis in duplication of a region of chromosome 17p11.2
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Potocki-Luspski syndrome
Summary
Potocki-Luspski syndrome is a developmental defect during embryogenesis[1]. It draws 39 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #116 of 308).[2]
Key Facts
- Potocki-Luspski syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Potocki-Luspski syndrome's instance of is recorded as class of disease[4].
- Potocki-Luspski syndrome's subclass of is recorded as chromosomal duplication syndrome[5].
- Potocki-Luspski syndrome's subclass of is recorded as partial duplication of the short arm of chromosome 17[6].
- Potocki-Luspski syndrome's subclass of is recorded as genetic syndromic intellectual disability[7].
- Potocki-Luspski syndrome's MeSH descriptor ID is recorded as C538355[8].
- Potocki-Luspski syndrome's MeSH descriptor ID is recorded as C536578[9].
- Potocki-Luspski syndrome's OMIM ID is recorded as 610883[10].
- Potocki-Luspski syndrome's Disease Ontology ID is recorded as DOID:0060853[11].
- Potocki-Luspski syndrome's Orphanet ID is recorded as 1713[12].
- Potocki-Luspski syndrome's NCI Thesaurus ID is recorded as C124846[13].
- Potocki-Luspski syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060853[14].
- Potocki-Luspski syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060853[15].
- Potocki-Luspski syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1713[16].
- Potocki-Luspski syndrome's UMLS CUI is recorded as C1970482[17].
- Potocki-Luspski syndrome's UMLS CUI is recorded as C2931246[18].
- Potocki-Luspski syndrome's ICD-10-CM is recorded as Q92.3[19].
- Potocki-Luspski syndrome's GARD rare disease ID is recorded as 10145[20].
- Potocki-Luspski syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
- Potocki-Luspski syndrome's Mondo ID is recorded as MONDO_0012574[22].
- Potocki-Luspski syndrome's Microsoft Academic ID is recorded as 2777294702[23].
- Potocki-Luspski syndrome's Genetics Home Reference Conditions ID is recorded as potocki-lupski-syndrome[24].
Why It Matters
Potocki-Luspski syndrome draws 39 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #116 of 308).[2] It has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[25] It is known by 10 alternative names across languages and contexts.[26]