Al-raqad syndrome

Preferred Label : Al-raqad syndrome;

Symbol : ARS;

CISMeF acronym : ARS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the scavenger decapping enzyme gene (DCPS, 610534.0001);

Prefixed ID : #616459;

Détails

Origin ID

616459;

UMLS CUI

C4085595;

Automatic exact mappings (from CISMeF team)
- Goniodysgenesis, Axenfeld Rieger syndrome and Peters anomaly [ICD-11 More detail]
- Origin of Replication [NCIt concept]
- Regional public health authorities [Blood Transfusion thesaurus concept]
- Rieger syndrome 2 [HGNC gene]
- regional agency [CISMeF resources Type]
- secreted LY6/PLAUR domain containing 1 [ORDO Gene]
- secreted LY6/PLAUR domain containing 1 [HGNC gene]
Genes related to phenotype
- Decapping enzyme, scavenger [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Congenital onset [HPO term]
- Deeply set eye [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Joint laxity [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Narrow mouth [HPO term]
- Sandal gap [HPO term]
- Short nose [HPO term]
- Thin upper lip vermilion [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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