Adult syndrome

Preferred Label : Adult syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acro-dermato-ungual-lacrimal-tooth syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor protein p73-like gene (TP73L, 603273.0011);

Prefixed ID : #103285;

Détails

Origin ID

103285;

UMLS CUI

C1863204;

Automatic exact mappings (from CISMeF team)
- ADULT syndrome [ICD-11 More detail]
CISMeF manual mappings
- Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ADULT syndrome [DO Concept]
- ADULT syndrome [ORDO Disease]
- Propping Zerres syndrome [MeSH concept]
- propping zerres syndrome [MeSH Supplementary Concept]
DO Cross reference
- ADULT syndrome [DO Concept]
Genes related to phenotype
- Tumor protein p63 [OMIM gene]
HPO term(s)
- Absent nipple [HPO term]
- Adermatoglyphia [HPO term]
- Alopecia of scalp [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blond hair [HPO term]
- Breast hypoplasia [HPO term]
- Conjunctivitis [HPO term]
- Cutaneous photosensitivity [HPO term]
- Dermal atrophy [HPO term]
- Dry skin [HPO term]
- Ectodermal dysplasia [HPO term]
- Eczema [HPO term]
- Fair hair [HPO term]
- Freckling [HPO term]
- Hypodontia [HPO term]
- Hypoplastic nipples [HPO term]
- Microdontia [HPO term]
- Nail pits [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Oligodontia [HPO term]
- Oral cleft [HPO term]
- Premature loss of permanent teeth [HPO term]
- Sparse axillary hair [HPO term]
- Sparse scalp hair [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Thin scalp hair [HPO term]
- Thin skin [HPO term]
- Toe syndactyly [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- ADULT syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ADULT syndrome [ORDO Disease]
- ADULT syndrome [DO Concept]
- Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) [SNOMED CT concept]
- Propping Zerres syndrome [MeSH concept]
- propping zerres syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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