Hypotrichosis, congenital, with juvenile macular dystrophy

Preferred Label : Hypotrichosis, congenital, with juvenile macular dystrophy;

Symbol : HJMD;

CISMeF acronym : HJMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypotrichosis with cone-rod dystrophy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cadherin 3 gene (CDH3, 114021.0001);

Prefixed ID : #601553;

Détails

Origin ID

601553;

UMLS CUI

C1832162;

Automatic exact mappings (from CISMeF team)
- CDH3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Hypotrichosis with juvenile macular degeneration [ORDO Disease]
- Juvenile macular degeneration and hypotrichosis [MeSH concept]
- congenital hypotrichosis with juvenile macular dystrophy [DO Concept]
- congenital hypotrichosis with juvenile macular dystrophy [Disease (Nov.)]
- juvenile macular degeneration and hypotrichosis [MeSH Supplementary Concept]
DO Cross reference
- congenital hypotrichosis with juvenile macular dystrophy [DO Concept]
Genes related to phenotype
- Cadherin 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Congenital hypotrichosis [HPO term]
- Hypotrichosis [HPO term]
- Macular dystrophy [HPO term]
- Pili torti [HPO term]
- Progressive juvenile macular dystrophy [HPO term]
- Reduced terminal:vellus ratio [HPO term]
- Reduced visual acuity [HPO term]
- Sparse hair [HPO term]
Not associated HPO term(s)
- Abnormal fingernail morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
ORDO concept(s)
- Hypotrichosis with juvenile macular degeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypotrichosis with juvenile macular degeneration [ORDO Disease]
- Juvenile macular degeneration and hypotrichosis [MeSH concept]
- congenital hypotrichosis with juvenile macular dystrophy [DO Concept]
- congenital hypotrichosis with juvenile macular dystrophy [Disease (Nov.)]
- juvenile macular degeneration and hypotrichosis [MeSH Supplementary Concept]

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