Rapp-hodgkin syndrome

Preferred Label : Rapp-hodgkin syndrome;

Symbol : RHS;

CISMeF acronym : OFC8; RHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectodermal dysplasia, anhidrotic, with cleft lip/palate;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor protein p63 gene (TP63, 603273.0007);

Prefixed ID : #129400;

Details

Origin ID

129400;

UMLS CUI

C1785148;

Automatic exact mappings (from CISMeF team)
- Cleft lip with or without cleft palate [ORDO Disease]
- Rh Negative Blood Group [NCIt concept]
- Rh Positive Blood Group [NCIt concept]
- Rh:Type:Pt:Bld:Nom: [LOINC code]
- Rhodium [NCIt concept]
- TP63 wt Allele [NCIt concept]
- cleft lip with or without cleft palate, nonsyndromic, 8 [MeSH Supplementary Concept]
- cleft lip with or without cleft palate, nonsyndromic, 8 [MeSH concept]
- orofacial cleft 8 [DO Concept]
- rehabilitation [MeSH Descriptor]
- rhinal sulcus [UBERON concept]
- tumor protein p63 [ORDO Gene]
Currated CISMeF NLP mapping
- Rapp-Hodgkin syndrome [PASCAL descriptor]
- Rapp-Hodgkin syndrome [DO Concept]
- Rapp-Hodgkin syndrome [ICD-11 More detail]
- Rapp-Hodgkin syndrome [MeSH concept]
- Rapp-Hodgkin syndrome [MeSH Supplementary Concept]
- Rapp-Hodgkin syndrome [ORDO Disease]
DO Cross reference
- Rapp-Hodgkin syndrome [DO Concept]
Genes related to phenotype
- Tumor protein p63 [OMIM gene]
HPO term(s)
- Absent lacrimal punctum [HPO term]
- Anhidrotic ectodermal dysplasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conical tooth [HPO term]
- Decreased number of sweat glands [HPO term]
- Depressed nasal bridge [HPO term]
- Fine hair [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- Hypodontia [HPO term]
- Hypohidrosis [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypospadias [HPO term]
- Low nasal bridge [HPO term]
- Microdontia [HPO term]
- Narrow mouth [HPO term]
- Narrow nose [HPO term]
- Onychogryposis [HPO term]
- Pili canaliculi [HPO term]
- Progressive alopecia [HPO term]
- Ptosis [HPO term]
- Recurrent otitis media [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Small, conical teeth [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
- Syndactyly [HPO term]
- Thin skin [HPO term]
- Underdeveloped nasal alae [HPO term]
- Velopharyngeal insufficiency [HPO term]
ORDO concept(s)
- Cleft lip and alveolus [ORDO Disease]
- Cleft lip/palate [ORDO Disease]
- Isolated cleft lip [ORDO Disease]
- Rapp-Hodgkin syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [ORDO Disease]
- Rapp-Hodgkin syndrome [ORDO Disease]
- Rapp-Hodgkin syndrome [MeSH Supplementary Concept]
- Rapp-Hodgkin syndrome [MeSH concept]
- Rapp-Hodgkin syndrome [DO Concept]
- Rapp-Hodgkin syndrome [PASCAL descriptor]
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [DO Concept]

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