Intellectual developmental disorder, X-linked, syndromic, siderius type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, siderius type;

Symbol : MRXSSD;

CISMeF acronym : MRXSSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, siderius type; Siderius-hamel syndrome; Siderius X-linked mental retardation syndrome;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the PHD finger protein 8 gene (PHF8, 300560.0001);

Prefixed ID : #300263;

Details

Origin ID

300263;

UMLS CUI

C1846055;

Automatic exact mappings (from CISMeF team)
- syndromic X-linked intellectual disability Siderius type [DO Concept]
CISMeF manual mappings
- X-linked intellectual disability, Siderius type [ORDO Disease]
Currated CISMeF NLP mapping
- Siderius X-linked mental retardation syndrome [MeSH concept]
- X-linked intellectual disability Siderius type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Siderius type [MedDRA Preferred Term]
- siderius X-linked mental retardation syndrome [MeSH Supplementary Concept]
DO Cross reference
- syndromic X-linked intellectual disability Siderius type [DO Concept]
Genes related to phenotype
- Phd finger protein 8 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Broad nasal tip [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Delayed speech and language development [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Large hands [HPO term]
- Long face [HPO term]
- Long toe [HPO term]
- Low posterior hairline [HPO term]
- Microcephaly [HPO term]
- Nasal speech [HPO term]
- Pes planus [HPO term]
- Prominent supraorbital ridges [HPO term]
- Sloping forehead [HPO term]
- Synophrys [HPO term]
- Thoracic kyphosis [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Siderius type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Siderius X-linked mental retardation syndrome [MeSH concept]
- X-linked intellectual disability, Siderius type [ORDO Disease]
- siderius X-linked mental retardation syndrome [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Siderius type [DO Concept]

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