Heimler syndrome 2

Preferred Label : Heimler syndrome 2;

Symbol : HMLR2;

CISMeF acronym : HMLR2; PBD4C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PBD4C; Peroxisome biogenesis disorder 4c;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxisome biogenesis factor-6 gene (PEX6, 601498.0010);

Prefixed ID : #616617;

Details

Origin ID

616617;

UMLS CUI

C4225267;

Automatic exact mappings (from CISMeF team)
- Heimler syndrome 2 [DO Concept]
DO Cross reference
- Heimler syndrome 2 [DO Concept]
Genes related to phenotype
- Peroxisome biogenesis factor 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dental crowding [HPO term]
- Leukonychia [HPO term]
- Pes planus [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
ORDO concept(s)
- Deafness-enamel hypoplasia-nail defects syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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