pycnodysostosis
osteochondrodysplasia that has material basis in a mutation in the CTSK gene which results in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges
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pycnodysostosis
Summary
pycnodysostosis is a developmental defect during embryogenesis[1]. pycnodysostosis draws 192 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #38 of 308).[2]
Key Facts
- pycnodysostosis's instance of is recorded as developmental defect during embryogenesis[3].
- pycnodysostosis's instance of is recorded as rare disease[4].
- pycnodysostosis's instance of is recorded as class of disease[5].
- pycnodysostosis's subclass of is recorded as osteochondrodysplasia[6].
- pycnodysostosis's subclass of is recorded as developmental anomaly of metabolic origin[7].
- pycnodysostosis's subclass of is recorded as genetic disease[8].
- pycnodysostosis's MeSH descriptor ID is recorded as D058631[9].
- pycnodysostosis's OMIM ID is recorded as 265800[10].
- pycnodysostosis's Freebase ID is recorded as /m/043q8j_[11].
- pycnodysostosis's KEGG ID is recorded as H00273[12].
- pycnodysostosis's MeSH tree code is recorded as C05.116.099.708.779[13].
- pycnodysostosis's MeSH tree code is recorded as C16.320.565.595.800[14].
- pycnodysostosis's MeSH tree code is recorded as C16.320.812[15].
- pycnodysostosis's MeSH tree code is recorded as C18.452.648.595.800[16].
- pycnodysostosis's Disease Ontology ID is recorded as DOID:0080038[17].
- pycnodysostosis's Orphanet ID is recorded as 763[18].
- pycnodysostosis's NCI Thesaurus ID is recorded as C131187[19].
- pycnodysostosis's health specialty is recorded as rheumatology[20].
- pycnodysostosis's health specialty is recorded as medical genetics[21].
- pycnodysostosis's health specialty is recorded as endocrinology[22].
- pycnodysostosis's genetic association is recorded as CTSK[23].
- pycnodysostosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080038[24].
- pycnodysostosis's exact match is recorded as http://identifiers.org/doid/DOID:0080038[25].
- pycnodysostosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_763[26].
- pycnodysostosis's UMLS CUI is recorded as C0238402[27].
Why It Matters
pycnodysostosis draws 192 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #38 of 308).[2] pycnodysostosis has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.[28] pycnodysostosis is known by 7 alternative names across languages and contexts.[29]