Skin creases, congenital symmetric circumferential, 1

Preferred Label : Skin creases, congenital symmetric circumferential, 1;

Symbol : CSCSC1;

CISMeF acronym : CSCSC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Skin creases, multiple benign ring-shaped, of limbs; Circumferential skin creases, kunze type; Michelin tire baby syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta tubulin gene (TUBB, 191130.0004);

Prefixed ID : #156610;

Details

Origin ID

156610;

UMLS CUI

C4551592;

Currated CISMeF NLP mapping
- Michelin tire baby syndrome [PASCAL descriptor]
- Michelin tire baby syndrome [MeSH concept]
- Michelin-tire baby (disorder) [SNOMED CT concept]
- Multiple benign circumferential skin creases on limbs [ORDO Disease]
- michelin tire baby syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Tubulin, beta [OMIM gene]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Cleft palate [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic nipples [HPO term]
- Intellectual disability [HPO term]
- Localized neuroblastoma [HPO term]
- Long fingers [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Motor delay [HPO term]
- Narrow mouth [HPO term]
- Pectus excavatum [HPO term]
- Periorbital fullness [HPO term]
- Posteriorly rotated ears [HPO term]
- Short neck [HPO term]
- Short palpebral fissure [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Multiple benign circumferential skin creases on limbs [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Michelin tire baby syndrome [MeSH concept]
- Michelin tire baby syndrome [PASCAL descriptor]
- Michelin-tire baby (disorder) [SNOMED CT concept]
- Multiple benign circumferential skin creases on limbs [ORDO Disease]
- michelin tire baby syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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