Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

Preferred Label : Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive; ? same as Peters-plus syndrome (261540);

Prefixed ID : 601427;

Details

Origin ID

601427;

UMLS CUI

C1832362;

Automatic exact mappings (from CISMeF team)
- Jung Wolff Back Stahl syndrome [MeSH concept]
- Jung syndrome [ORDO Disease]
- jung wolff back stahl syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormal thorax morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital hypothyroidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Growth delay [HPO term]
- Hip dysplasia [HPO term]
- Hypoplasia of penis [HPO term]
- Iris coloboma [HPO term]
- Ocular anterior segment dysgenesis [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Tracheal stenosis [HPO term]
ORDO concept(s)
- Jung syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jung Wolff Back Stahl syndrome [MeSH concept]
- Jung syndrome [ORDO Disease]
- jung wolff back stahl syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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