Pycnodysostosis

Preferred Label : Pycnodysostosis;

CISMeF acronym : PKND; PYCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PKND; Pyknodysostosis; PYCD;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cathepsin K gene (CTSK, 601105.0001);

Prefixed ID : #265800;

Details

Origin ID

265800;

UMLS CUI

C0238402;

Automatic exact mappings (from CISMeF team)
- CTSK wt Allele [NCIt concept]
- Pycnodysostosis [ICD-11 More detail]
- cathepsin K [ORDO Gene]
Currated CISMeF NLP mapping
- Pycnodysostosis [NCIt concept]
- Pycnodysostosis [MedDRA Preferred Term]
- Pycnodysostosis [ORDO Disease]
- Pyknodysostosis [PASCAL descriptor]
- Pyknodysostosis (disorder) [SNOMED CT concept]
- Toulouse Lautrec syndrome [Disease (Nov.)]
- pycnodysostosis [DO Concept]
- pycnodysostosis [MeSH Descriptor]
- pycnodysostosis [MeSH concept]
- pyknodysostosis [SNOMED Notion]
DO Cross reference
- pycnodysostosis [DO Concept]
Genes related to phenotype
- Cathepsin k [OMIM gene]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Absent frontal sinuses [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Carious teeth [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Frontal and occipital prominence [HPO term]
- Frontal bossing [HPO term]
- Grooved nails [HPO term]
- Hypodontia [HPO term]
- Increased bone mineral density [HPO term]
- Micrognathia [HPO term]
- Narrow palate [HPO term]
- Osteolytic defects of the distal phalanges of the hand [HPO term]
- Persistence of primary teeth [HPO term]
- Persistent open anterior fontanelle [HPO term]
- Prominent nose [HPO term]
- Prominent occiput [HPO term]
- Ridged nail [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Spondylolisthesis [HPO term]
- Spondylolysis [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Pycnodysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pycnodysostosis [ORDO Disease]
- Pycnodysostosis [NCIt concept]
- Pycnodysostosis [MedDRA Preferred Term]
- Pyknodysostosis [PASCAL descriptor]
- Pyknodysostosis (disorder) [SNOMED CT concept]
- Toulouse Lautrec syndrome [Disease (Nov.)]
- pycnodysostosis [MeSH Descriptor]
- pycnodysostosis [MeSH concept]
- pycnodysostosis [DO Concept]
- pyknodysostosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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