Clark-baraitser syndrome

Preferred Label : Clark-baraitser syndrome;

Obsolete resource : true;

Moved to : 617752;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Baraitser syndrome;

Inheritance : X-linked;

Prefixed ID : 300602;

Details

Origin ID

300602;

UMLS CUI

C2931130;

Automatic exact mappings (from CISMeF team)
- Progeroid short stature with pigmented nevi (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Clark-Baraitser syndrome [ORDO Disease]
- Clark-Baraitser syndrome [DO Concept]
- Clark-Baraitser syndrome [MeSH concept]
- Clark-Baraitser syndrome [MeSH Supplementary Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Broad nasal tip [HPO term]
- Broad palm [HPO term]
- Coarse facial features [HPO term]
- Downslanted palpebral fissures [HPO term]
- Exaggerated median tongue furrow [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Genu recurvatum [HPO term]
- Genu valgum [HPO term]
- Heavy supraorbital ridges [HPO term]
- Hyperkyphosis [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Macrocephaly [HPO term]
- Macroorchidism [HPO term]
- Maxillary lateral incisor microdontia [HPO term]
- Obesity [HPO term]
- Prominent forehead [HPO term]
- Prominent median palatal raphe [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short broad hands [HPO term]
- Short palm [HPO term]
- Tall stature [HPO term]
- Tapered finger [HPO term]
- Thick lower lip vermilion [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Clark-Baraitser syndrome [MeSH Supplementary Concept]
- Clark-Baraitser syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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