Pectus excavatum, macrocephaly, short stature, and dysplastic nails

Preferred Label : Pectus excavatum, macrocephaly, short stature, and dysplastic nails;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %600399;

Details

Origin ID

600399;

UMLS CUI

C1838160;

Currated CISMeF NLP mapping
- Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) [SNOMED CT concept]
- Pectus excavatum-macrocephaly-dysplastic nails syndrome [ORDO Disease]
- Zori Stalker Williams syndrome [MeSH concept]
- pectus excavatum, macrocephaly, short stature, dysplastic nails [MeSH concept]
- pectus excavatum, macrocephaly, short stature, dysplastic nails [MeSH Supplementary Concept]
- zori stalker williams syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Nail dysplasia [HPO term]
- Pectus excavatum [HPO term]
- Prominent forehead [HPO term]
- Prominent supraorbital ridges [HPO term]
- Relative macrocephaly [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
ORDO concept(s)
- Pectus excavatum-macrocephaly-dysplastic nails syndrome [ORDO Disease]
See also inter- (CISMeF)
- Zori Stalker Williams syndrome [MeSH concept]
- zori stalker williams syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pectus excavatum, macrocephaly, short stature, dysplastic nails [MeSH Supplementary Concept]
- pectus excavatum, macrocephaly, short stature, dysplastic nails [MeSH concept]

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