Midline malformations, multiple, with limb abnormalities and hypopituitarism

Preferred Label : Midline malformations, multiple, with limb abnormalities and hypopituitarism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Dincsoy syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 601016;

Détails

Origin ID

601016;

UMLS CUI

C1832874;

Currated CISMeF NLP mapping
- Dincsoy Salih Patel syndrome [MeSH concept]
- Dincsoy-Salih-Patel syndrome [ORDO Disease]
- dincsoy salih patel syndrome [MeSH Supplementary Concept]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Anterior hypopituitarism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Depressed nasal ridge [HPO term]
- Dysgenesis of corpus callosum [HPO term]
- Dysplastic corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Joint contracture of the hand [HPO term]
- Limb undergrowth [HPO term]
- Micromelia [HPO term]
- Overlapping fingers [HPO term]
Not associated HPO term(s)
- Polydactyly [HPO term]
ORDO concept(s)
- Dincsoy-Salih-Patel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dincsoy Salih Patel syndrome [MeSH concept]
- Dincsoy-Salih-Patel syndrome [ORDO Disease]
- dincsoy salih patel syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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