Hamamy syndrome

Preferred Label : Hamamy syndrome;

Symbol : HMMS;

CISMeF acronym : HMMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Iroquois homeobox protein-5 gene (IRX5, 606195.0001);

Prefixed ID : #611174;

Détails

Origin ID

611174;

UMLS CUI

C1970027;

Currated CISMeF NLP mapping
- Craniofacial dysplasia osteopenia syndrome (disorder) [SNOMED CT concept]
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome [ORDO Disease]
- hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility [MeSH Supplementary Concept]
- hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility [MeSH concept]
False automatic mappings
- Altretamine [NCIt concept]
- Hidden Markov Model [NCIt concept]
Genes related to phenotype
- Iroquois homeobox protein 5 [OMIM gene]
HPO term(s)
- Abnormality of the outer ear [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Clinodactyly [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Dental malocclusion [HPO term]
- Developmental regression [HPO term]
- Down-sloping shoulders [HPO term]
- Dysphagia [HPO term]
- High myopia [HPO term]
- High palate [HPO term]
- Hip dysplasia [HPO term]
- Hypertelorism [HPO term]
- Hypochromic anemia [HPO term]
- Hypodontia [HPO term]
- Hypoparathyroidism [HPO term]
- Inguinal hernia [HPO term]
- Long fingers [HPO term]
- Long philtrum [HPO term]
- Long toe [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcytic anemia [HPO term]
- Micrognathia [HPO term]
- Mitral regurgitation [HPO term]
- Moderate global developmental delay [HPO term]
- Osteopenia [HPO term]
- Pectus excavatum [HPO term]
- Preauricular skin tag [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 2nd finger [HPO term]
- Smooth philtrum [HPO term]
- Sparse lateral eyebrow [HPO term]
- Syndactyly [HPO term]
- Tapered finger [HPO term]
- Webbed neck [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial dysplasia osteopenia syndrome (disorder) [SNOMED CT concept]
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome [ORDO Disease]
- hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility [MeSH Supplementary Concept]
- hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility [MeSH concept]

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