Hypopigmentation, organomegaly, and delayed myelination and development

Preferred Label : Hypopigmentation, organomegaly, and delayed myelination and development;

Symbol : HOD;

CISMeF acronym : HOD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chloride channel-7 gene (CLCN7, 602727.0007);

Laboratory abnormalities : Enlarged lysosomal storage vacuoles in liver, spleen, and kidney;

Prefixed ID : #618541;

Détails

Origin ID

618541;

UMLS CUI

C5203300;

Genes related to phenotype
- Chloride channel 7 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hypopigmentation of the skin [HPO term]
- Intrauterine growth retardation [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Reduced visual acuity [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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