Martin-probst syndrome

Preferred Label : Martin-probst syndrome;

Symbol : MRXSMP;

CISMeF acronym : MRXSMP;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Martin-probst deafness-mental retardation syndrome; Mental retardation, X-linked, syndromic, martin-probst type;

Inheritance : X-linked recessive;

Prefixed ID : %300519;

Details

Origin ID

300519;

UMLS CUI

C1845285;

Currated CISMeF NLP mapping
- Deafness-intellectual disability syndrome, Martin-Probst type [ORDO Disease]
- Martin-Probst Deafness-Mental retardation syndrome [MeSH concept]
- Martin-Probst Deafness-Mental retardation syndrome [MeSH Supplementary Concept]
- deafness-intellectual disability, Martin-Probst type syndrome [DO Concept]
DO Cross reference
- deafness-intellectual disability, Martin-Probst type syndrome [DO Concept]
HPO term(s)
- Bifid scrotum [HPO term]
- Chordee [HPO term]
- Cryptorchidism [HPO term]
- Dental malocclusion [HPO term]
- Epicanthus [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nipples [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Myopia [HPO term]
- Narrow palpebral fissure [HPO term]
- Pancytopenia [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Telangiectasia [HPO term]
- Telecanthus [HPO term]
- Thick lower lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Deafness-intellectual disability syndrome, Martin-Probst type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness and intellectual disability Martin Probst type syndrome (disorder) [SNOMED CT concept]
- Deafness-intellectual disability syndrome, Martin-Probst type [ORDO Disease]
- Martin-Probst Deafness-Mental retardation syndrome [MeSH Supplementary Concept]
- Martin-Probst Deafness-Mental retardation syndrome [MeSH concept]

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