Hypertelorism, microtia, facial clefting syndrome

Preferred Label : Hypertelorism, microtia, facial clefting syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Hmc syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %239800;

Détails

Origin ID

239800;

UMLS CUI

C0220742;

Automatic exact mappings (from CISMeF team)
- hypertelorism, microtia, facial clefting syndrome [DO Concept]
Currated CISMeF NLP mapping
- Bixler Christian Gorlin syndrome [MeSH concept]
- Hypertelorism with microtia and facial clefting syndrome (disorder) [SNOMED CT concept]
- Hypertelorism-microtia-facial clefting syndrome [ORDO Disease]
- bixler christian gorlin syndrome [MeSH Supplementary Concept]
DO Cross reference
- hypertelorism, microtia, facial clefting syndrome [DO Concept]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nose [HPO term]
- Broad nasal tip [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Ectopic kidney [HPO term]
- Facial cleft [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Mild micrognathia [HPO term]
- Narrow mouth [HPO term]
- Psychomotor retardation [HPO term]
- Short 5th finger [HPO term]
- Small thenar eminence [HPO term]
ORDO concept(s)
- Hypertelorism-microtia-facial clefting syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bixler Christian Gorlin syndrome [MeSH concept]
- Hypertelorism with microtia and facial clefting syndrome (disorder) [SNOMED CT concept]
- Hypertelorism-microtia-facial clefting syndrome [ORDO Disease]
- bixler christian gorlin syndrome [MeSH Supplementary Concept]
- hypertelorism, microtia, facial clefting syndrome [DO Concept]

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

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