Juberg-hayward syndrome

Preferred Label : Juberg-hayward syndrome;

Symbol : JHS;

CISMeF acronym : JHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Orocraniodigital syndrome; Cleft lip/palate with abnormal thumbs and microcephaly; Cleft lip/palate with radial head and digital anomalies;

Inheritance : Autosomal recessive, dominance not excluded;

Prefixed ID : #216100;

Details

Origin ID

216100;

UMLS CUI

C0796099;

Automatic exact mappings (from CISMeF team)
- Juberg Hayward syndrome (disorder) [SNOMED CT concept]
- Juberg-Hayward syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Juberg Hayward syndrome [MeSH concept]
- Juberg-Hayward syndrome [ORDO Disease]
- Orocraniodigital syndrome [PASCAL descriptor]
- juberg hayward syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Establishment of sister chromatid cohesion n-acetyltransferase 2 [OMIM gene]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Abnormality of the radial head [HPO term]
- Abnormality of toe [HPO term]
- Anteriorly placed anus [HPO term]
- Aplasia/Hypoplasia of the thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowed and upward slanting eyebrows [HPO term]
- Cleft upper lip [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Genu varus [HPO term]
- Highly arched eyebrow [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Limited elbow extension [HPO term]
- Microcephaly [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Juberg-Hayward syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juberg Hayward syndrome [MeSH concept]
- Juberg Hayward syndrome (disorder) [SNOMED CT concept]
- Juberg-Hayward syndrome [ORDO Disease]
- Orocraniodigital syndrome [PASCAL descriptor]
- juberg hayward syndrome [MeSH Supplementary Concept]

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